Overview

These mice carry three mutations, Mc1r^E-so Gli3^Xt-J Zeb1^Tw, affecting coat color, digit development, and mobility respectively.

Genetic overview

Genetic Background	Generation

Mc1r^E-so

Allele Type	Gene Symbol	Gene Name
Spontaneous	Mc1r	melanocortin 1 receptor

Gli3^Xt-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Gli3	GLI-Kruppel family member GLI3

Allele Type	Gene Symbol	Gene Name
Spontaneous	Zeb1	zinc finger E-box binding homeobox 1

Research Applications

Developmental Biology Research
Neurobiology Research
Sensorineural Research
Mouse/Human Gene Homologs
Dermatology Research

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Details

Detailed Description

Mice heterozygous for the twirler mutation (Zeb1^Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1r^E-so) and extra toes-Jackson (Gli3^St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9.

Development

The somber allele of the melanocortin one receptor arose in the C3H/Bt strain at Edinburgh before 1961. The Jackson laboratory received this allele from Dr. M. Foster at U. of Michigan who had received it from Dr. N. Bateman, Edinburgh about 1964 on a C3H background. Extra toes Jackson (Xt-J) arose spontaneously in C3H/HeJ around 1961. Twirler (Tw) was received from Dr. M. Lyon, Harwell in 1961 accompanied by ataxia (ax). A twirler male was crossed to a caracul (Ca) steel (Sl) female and the Ca Sl Tw linkage testing stock was started by Dr. M.C. Green. This stock was sibling mated with occasional outcrosses to C57BL/6J. In 1967 a Tw/+ male from this stock was mated to a somber female and the E-so Tw offspring was mated to a C3H/HeJ-Gli3^Xt-J. Also in 1967 Tw was replaced in the Ca Sl Tw stock by hammer toe (Hm). From the cross of twirler to somber the E-so/E-so Tw/+ Xt-J/+ linkage testing stock, STX/Le, was developed and was bred by sibling matings. In 1988 at approximately generation F72 twirler was bred out of the stock. However, before twirler was bred out this stock was cryopreserved in 1988 with all three mutations as Mc1r^E-so/Mc1r^E-so Tw/+ Gli3^Xt-J/+ in the male mated to a C3HeB/FeJ female.

Genetics

Mc1r^E-so

Allele Symbol: Mc1r^E-so

Allele Name	sombre
Allele Type	Spontaneous
Allele Synonym(s)	E^so; So
Gene Symbol and Name	Mc1r, melanocortin 1 receptor
Gene Synonym(s)
Strain of Origin	C3H
Chromosome	8
Molecular Note	A T-to-C mutation in codon 98 is predicted to result in a leucine to proline alteration at this position (p.L98P).

Gli3^Xt-J

Allele Symbol: Gli3^Xt-J

Allele Name	extra toes Jackson
Allele Type	Spontaneous
Allele Synonym(s)	extra-toes ^J; Gli3^-; Gli3^delta; Gli3^Xt; Gli3^XtJ; xt; Xt^J; XtJ
Gene Symbol and Name	Gli3, GLI-Kruppel family member GLI3
Gene Synonym(s)
Strain of Origin	C3H/HeJ
Chromosome	13
General Note	Genbank ID for this allele: AF418601 Phenotypic Similarity to Human Syndrome: lambdoid suture craniosynostosis in homozygous mice (J:163175)
Molecular Note	Genomic sequencing and PCR analysis identified the mutation as a 51.5 kb deletion. The deleted region contains all Gli3 coding sequences 3' to exon 9, which includes sequences encoding some, but not all, of the zinc finger domains. This deletion results in the expression of an abnormal transcript that fuses Gli3 sequences to an exon belonging to an apparent LTR/MaLR repetitive element. However, this transcript lacks the sequences required for normal GLI3 activity.

Zeb1^Tw

Allele Symbol: Zeb1^Tw

Allele Name	twirler
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	Zeb1, zinc finger E-box binding homeobox 1
Gene Synonym(s)
Strain of Origin	STOCK PCS
Chromosome	18
Molecular Note	A single nucleotide G-to-A substitution at chr18:5592148 (GRCm38) is located 181 bp downstream of Zeb1 exon 1 and 12 bp downstream of exon 1 of overlapping lncRNA Gm10125 on the opposite strand. This mutation does not affect the adjacent splicing site but does disrupt a predicted Myb binding site. An electrophoretic mobility shift assay demonstrated that a probe carrying this mutation does not interfere with Myb binding, unlike a probe with the wild-type sequence. RT-PCR analysis showed that expression of transcripts containing exons 1a and 2 and exons 2 and 3 were increased compared to wild-type controls.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Greig cephalopolysyndactyly syndrome

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Gli3^Xt-J related

Developmental Biology Research
- Neural Tube Defects
- Skeletal Defects
Neurobiology Research
- Neural Tube Defects
Sensorineural Research
- Eye Defects
- Cataracts
  - diffuse
Mouse/Human Gene Homologs
- Greig cephalopolysyndactyly syndrome

Genotype: Mc1r^E-so related

Dermatology Research
- Color and White Spotting Defects
  - red hair color

Genotype: Zeb1^Tw related

Developmental Biology Research
- Neurodevelopmental Defects
- Craniofacial and Palate Defects
  - cleft palate and cleft lip
Neurobiology Research
- Neurodevelopmental Defects
- Hearing Defects
Sensorineural Research
- Hearing Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Zeb1^Tw/Zeb1⁺
B6.Cg-Zeb1

adipose tissue phenotype

increased percent body fat/body weight

hematopoietic system phenotype

decreased leukocyte cell number
- in adults

small thymus
- in adults

decreased neutrophil cell number
- decrease in the number of polymorphonuclear neutrophils in adults

decreased lymphocyte cell number
- in adults

small spleen
- in adults

homeostasis/metabolism phenotype

increased circulating free fatty acids level

increased circulating leptin level

abnormal circulating lipid level

impaired glucose tolerance
- slight glucose intolerance in females at 15 weeks of age

increased circulating insulin level

abnormal circulating hormone level

increased circulating adiponectin level
- elevated in the serum

increased circulating corticosterone level

insulin resistance
- in females at 15 weeks of age

increased circulating triglyceride level

immune system phenotype

decreased neutrophil cell number
- decrease in the number of polymorphonuclear neutrophils in adults

small thymus
- in adults

decreased lymphocyte cell number
- in adults

decreased leukocyte cell number
- in adults

small spleen
- in adults

behavior/neurological phenotype

increased food intake
- starting at 7 weeks of age mice consume 15 - 20% more food

circling

endocrine/exocrine gland phenotype

small thymus
- in adults

growth/size/body region phenotype

obese
- in adults

increased body weight

hearing/vestibular/ear phenotype

abnormal lateral semicircular canal morphology
- the non-ampullated ends are irregular or constricted

abnormal semicircular canal morphology
- the contours of the canals are irregular due to small bulges and projections

increased or absent threshold for auditory brainstem response
- increase in the binaural average ABR thresholds at 1 month of age

enlarged otoliths
- utricles have giant otoconia visible by scanning electron microscopy

abnormal cochlea morphology
- average length of the cochlear duct is 91% that of wild-type controls

Genotype: Zeb1^Tw/Zeb1^Tw
STOCK PCS

behavior/neurological phenotype

abnormal suckling behavior
- homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation
- Normal - in contrast, unaffected siblings recovered by C-section and placed with foster mothers feed and grow normally

digestive/alimentary phenotype

cleft palate
- cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
- at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
- one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

abnormal maxillary shelf morphology
- either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

meteorism
- some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines

growth/size/body region phenotype

abnormal maxillary shelf morphology
- either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

cleft palate
- at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
- cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
- one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

cleft upper lip
- 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases
- at birth, 13 of 30 homozygotes show cleft lip and palate

meteorism
- some homozygotes with cleft lip and palate swallow large amounts of air in the stomach and intestines

hearing/vestibular/ear phenotype

abnormal inner ear morphology
- homozygotes exhibit abnormal inner ears

mortality/aging

neonatal lethality, complete penetrance
- all homozygotes die within 24 hours of birth due to respiratory difficulty

respiratory system phenotype

respiratory distress
- when recovered by C-section, homozygotes with cleft palate and cleft lip can be stimulated to breathe regularly by mechanical stimulation; however, when stimulation is terminated, homozygotes become gradually cyanotic and die within a few hours
- homozygotes without cleft lip and a relatively narrow cleft palate are able to breathe normally, but if placed with a foster mother they die within 24 hrs from starvation
- severely affected homozygotes die of respiratory distress

skeleton phenotype

abnormal maxillary shelf morphology
- either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

craniofacial phenotype

cleft upper lip
- at birth, 13 of 30 homozygotes show cleft lip and palate
- 7 of these 13 homozygotes display bilateral cleft lip, 2 show left-sided cleft lip, and 2 show right-sided cleft lip; the side affected was not noted in the remaining 2 cases

cleft palate
- at birth, 13 of 30 homozygotes show cleft lip and palate; the remaining 17 show normal lips with cleft palate
- cleft palate is usually median or bilateral, although 2 left-sided and 2 right-sided clefts were also observed
- one of the left-sided clefts occurred with a left-sided cleft lip; in other unilateral cases, no cleft lip was observed

abnormal maxillary shelf morphology
- either one or both maxillary processes fail to grow to the midline, leaving the medial nasal processes exposed

Genotype: Zeb1^Tw/Zeb1⁺
involves: C57BL/6J

behavior/neurological phenotype

bidirectional circling
- heterozygotes exhibit bidirectional "twirling" or circling behavior

hyperactivity
- heterozygotes display hyperactivity, twirling around the cage in periodic spurts

reproductive system phenotype

reduced male fertility
- obese male heterozygotes breed at a reduced rate

transmission ratio distortion
- a less than 1:1 ratio of heterozygous (43.6%) to wild-type (56.4%) pups is obtained from matings of heterozygous males with wild-type females, suggesting increased lethality either in utero or prior to genotyping at 10 days after birth

female infertility
- obese female heterozygotes tend to become sterile

growth/size/body region phenotype

increased susceptibility to age related obesity
- onset of obesity varies from 2 months to 3 months of age in some heterozygotes
- most male and female heterozygotes become obese as they reach maturity

decreased body size
- young heterozygotes remain smaller than wild-type, despite normal feeding

hearing/vestibular/ear phenotype

abnormal inner ear morphology
- heterozygotes display inner ear defects (not shown)

integument phenotype

diluted coat color
- most heterozygotes display a lighter coat color than wild-type mice

sparse hair
- most heterozygotes have sparse hair

pigmentation phenotype

diluted coat color
- most heterozygotes display a lighter coat color than wild-type mice

Genotype: Zeb1^Tw/Zeb1^Tw
Not Specified

craniofacial phenotype

abnormal cribriform plate morphology
- breakage of the cribriform plate

abnormal olfactory epithelium morphology
- the olfactory epithelium is thinner at E14.5 and at birth

cleft secondary palate
- observed in all mutants

cleft upper lip
- unilateral cleft of the lip

abnormal olfactory sensory neuron morphology
- at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme
- the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

abnormal ethmoid bone morphology
- protrusion of the olfactory bulb into the nasal cavity through the ethmoid bone is accompanied by breakage of the cribriform plate

abnormal nasal septum morphology
- the nasal septum appears more bulbous

abnormal nasal cavity morphology
- severe alterations in the morphology of the nasal cavity

abnormal turbinate morphology
- present as masses of tissues
- the superior, middle, and inferior turbinates are not clearly defined

digestive/alimentary phenotype

cleft secondary palate
- observed in all mutants

growth/size/body region phenotype

abnormal olfactory epithelium morphology
- the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology
- at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme
- the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

abnormal turbinate morphology
- present as masses of tissues
- the superior, middle, and inferior turbinates are not clearly defined

abnormal nasal cavity morphology
- severe alterations in the morphology of the nasal cavity

cleft secondary palate
- observed in all mutants

cleft upper lip
- unilateral cleft of the lip

abnormal nasal septum morphology
- the nasal septum appears more bulbous

nervous system phenotype

abnormal olfactory bulb morphology
- the olfactory bulb often protrudes into the nasal cavity through the ethmoid bone
- abnormally shaped olfactory bulb in newborn pups; instead of ending in a triangular cone at the rostral end of the cerebellar lobes, one or sometimes both bulbs extend into elongated tips

abnormal olfactory bulb layer morphology
- the distinct layers of the olfactory bulb are not apparent in mutants

abnormal olfactory bulb mitral cell layer morphology
- mitral cells are scattered over the entire surface of the olfactory bulb

abnormal olfactory nerve morphology
- very few olfactory nerves reach the olfactory bulb
- the olfactory nerves are not organized into distinct tracts, instead, they are loosely packed and scattered in the mesenchyme of the nasal cavity or present as clumps of fibers

abnormal olfactory sensory neuron morphology
- at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme
- the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

abnormal olfactory bulb glomerular layer morphology
- the glomerular layer is virtually nonexistant

abnormal sensory neuron innervation pattern
- olfactory innervation is altered with reduced number of connections in the olfactory bulb

respiratory system phenotype

abnormal nasal cavity morphology
- severe alterations in the morphology of the nasal cavity

abnormal turbinate morphology
- the superior, middle, and inferior turbinates are not clearly defined
- present as masses of tissues

abnormal nasal septum morphology
- the nasal septum appears more bulbous

abnormal olfactory epithelium morphology
- the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology
- at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme
- the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic

skeleton phenotype

abnormal ethmoid bone morphology
- protrusion of the olfactory bulb into the nasal cavity through the ethmoid bone is accompanied by breakage of the cribriform plate

abnormal cribriform plate morphology
- breakage of the cribriform plate

abnormal turbinate morphology
- present as masses of tissues
- the superior, middle, and inferior turbinates are not clearly defined

taste/olfaction phenotype

abnormal olfactory epithelium morphology
- the olfactory epithelium is thinner at E14.5 and at birth

abnormal olfactory sensory neuron morphology
- the olfactory receptor neuron in the epithelium is less differentiated at E16.5 and at birth than in wild-type mice, and remains rounded in shape and euchromatic
- at E14.5, many mature olfactory receptor neurons are randomly found all over the mesenchyme

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H * CD-1

limbs/digits/tail phenotype

abnormal embryonic autopod plate morphology
- at day 12 of gestation, footpads are enlarged at the area destined to become digit 1

polydactyly
- display mild preaxial polydactyly in both fore- and hindlimbs

Genotype: Zeb1^Tw/Zeb1^Tw
B6.Cg-Zeb1

craniofacial phenotype

cleft palate

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

cleft palate

hearing/vestibular/ear phenotype

decreased posterior semicircular canal size
- truncated

absent lateral semicircular canal

decreased cochlear coiling
- shortening of the cochlear duct

Genotype: Zeb1^Tw/Zeb1^Tw
involves: C57BL/6J

digestive/alimentary phenotype

palatal shelves fail to meet at midline
- in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

cleft palate
- in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate
- in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

abnormal secondary palate development
- the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

cleft secondary palate
- all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

growth/size/body region phenotype

cleft palate
- in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate
- in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

palatal shelves fail to meet at midline
- in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

cleft upper lip
- cleft lips are either unilateral or bilateral; complete unilateral clefts are frequently associated with partial cleft lips on the other side
- homozygotes exhibit either incomplete cleft lips (where the facial processes destined to form the upper lip, medial and lateral nasal prominences appear nearly fused), or complete cleft lips (with visible separation of the facial processes)
- 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial
- the remaining 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial

abnormal secondary palate development
- the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

cleft secondary palate
- all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

distended abdomen
- many newborn homozygotes display a bloated abdominal region

midline facial cleft
- all homozygotes display clefts of the midfacial region, including clefts of the palate combined with either unilateral or bilateral clefts of the lip

abnormal nasal cavity morphology
- homozygotes exhibit a disrupted nasal cavity
- Normal - however, the nasal septum remains unaffected and is straight with a midline cartilage

abnormal turbinate morphology
- all homozygotes display malformed nasal turbinates

turbinate hypoplasia
- the nasal turbinates are reduced in size and number

craniofacial phenotype

abnormal premaxilla morphology
- homozygotes show absence of fusion of the premaxillary and lateral walls of the lips
- in mice with bilateral cleft lips, the premaxillary or prolabium region is protruded with absent hair follicles

turbinate hypoplasia
- the nasal turbinates are reduced in size and number

cleft palate
- in others, the unilateral or bilateral clefts of the lip are complete and extend into the premaxillary region and hard palate
- in some homozygotes with incomplete cleft lips the premaxilla is normal but the hard palate is completely clefted and the nasal septum is exposed

abnormal secondary palate development
- the epithelial layer of the palatal shelves is lined with ciliated columnar epithelium on the nasal side and keratinized epithelium on the oral side

cleft secondary palate
- all homozygotes display a secondary cleft palate, regardless of whether the primary palate is intact or not

cleft upper lip
- 11 of 16 homozygotets displayed bilateral cleft lips; 6 of these bilateral cleft lips were complete on one side and partial on the other, 4 were complete, and 1 was partial
- the remaining 5 of 11 homozygotes showed unilateral cleft lips, 3 complete and 2 partial
- cleft lips are either unilateral or bilateral; complete unilateral clefts are frequently associated with partial cleft lips on the other side
- homozygotes exhibit either incomplete cleft lips (where the facial processes destined to form the upper lip, medial and lateral nasal prominences appear nearly fused), or complete cleft lips (with visible separation of the facial processes)

midline facial cleft
- all homozygotes display clefts of the midfacial region, including clefts of the palate combined with either unilateral or bilateral clefts of the lip

abnormal nasal cavity morphology
- homozygotes exhibit a disrupted nasal cavity
- Normal - however, the nasal septum remains unaffected and is straight with a midline cartilage

abnormal turbinate morphology
- all homozygotes display malformed nasal turbinates

palatal shelves fail to meet at midline
- in homozygotes, the shelves of the secondary palate are significantly shorter and smaller than normal, thus exposing the nasal septum

hearing/vestibular/ear phenotype

abnormal inner ear morphology
- homozygotes exhibit inner ear defects (not shown)

mortality/aging

neonatal lethality, complete penetrance
- homozygotes are born alive but die within 24 hrs of birth

respiratory system phenotype

abnormal nasal cavity morphology
- Normal - however, the nasal septum remains unaffected and is straight with a midline cartilage
- homozygotes exhibit a disrupted nasal cavity

abnormal turbinate morphology
- all homozygotes display malformed nasal turbinates

turbinate hypoplasia
- the nasal turbinates are reduced in size and number

skeleton phenotype

turbinate hypoplasia
- the nasal turbinates are reduced in size and number

abnormal premaxilla morphology
- homozygotes show absence of fusion of the premaxillary and lateral walls of the lips
- in mice with bilateral cleft lips, the premaxillary or prolabium region is protruded with absent hair follicles

abnormal turbinate morphology
- all homozygotes display malformed nasal turbinates

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * C57BL/6

endocrine/exocrine gland phenotype

abnormal mammary gland bud morphology
- at 13.5, all lack of mammary bud pair number 5 and most lack bud number 3; a small proportion show reduction and/or misplacement of bud number 3

integument phenotype

abnormal mammary gland bud morphology
- at 13.5, all lack of mammary bud pair number 5 and most lack bud number 3; a small proportion show reduction and/or misplacement of bud number 3

mammalian phenotype

mortality/aging
- Background Sensitivity - homozygotes survive beyond E14.5 and up to birth at least

respiratory system phenotype

abnormal left lung morphology
- left lobe reduced in both width and length

abnormal right lung accessory lobe morphology
- accessory lobe reduced in both width and length

abnormal right lung caudal lobe morphology
- reduced width but not length in right caudal lobe

small lung
- lungs small in all homozygotes from E17.5 through to newborn pups

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H * CD-1

embryo phenotype

incomplete rostral neuropore closure
- neural tube closure is largely normal, although an opening around the midbrain region is seen

growth/size/body region phenotype

abnormal ear position
- misplaced ears

cleft palate
- occurs in some mice

abnormal tooth development
- occurs in some mice

hearing/vestibular/ear phenotype

abnormal ear position
- misplaced ears

homeostasis/metabolism phenotype

edema

integument phenotype

abnormal vibrissa morphology
- abnormal patterns of mystacial and supra-orbital hair

abnormal vibrissa number
- abnormal number of mystacial and supra-orbital hair

limbs/digits/tail phenotype

polydactyly
- forelimb exhibits severe polydactyly (7-8 digits) and hindlimb exhibits milder polydactyly (6 digits)
- present on all feet

short humerus
- slight shortening of the humerus

increased diameter of humerus
- slight thickening of the humerus

short radius
- slight shortening of the radius

abnormal embryonic autopod plate morphology
- at E12, mutant embryos show a widening in the preaxial and postaxial areas of the footplates, resulting in a paddle-shaped foot with polydactyly

short tibia
- severe truncation of the tibia is observed

increased diameter of radius
- slight thickening of the radius

increased diameter of ulna
- slight thickening of the ulna

syndactyly
- present on all feet

short ulna
- slight shortening of the ulna

mortality/aging

prenatal lethality, incomplete penetrance
- many mutants die embryonically with a wide range of defects

perinatal lethality, complete penetrance
- animals that survive to birth die within 2 days after birth

nervous system phenotype

exencephaly
- midbrain exencephaly

abnormal brain morphology
- gross malformations of the brain

incomplete rostral neuropore closure
- neural tube closure is largely normal, although an opening around the midbrain region is seen

skeleton phenotype

abnormal cranium morphology
- external nasal processes are reduced

increased diameter of ulna
- slight thickening of the ulna

abnormal sternum morphology
- sternum is unfused

abnormal tooth development
- occurs in some mice

abnormal vertebral arch morphology
- neural arches of other cervical vertebrae are expanded and have irregular shapes
- C1 and C2 neural arches are fused

short tibia
- severe truncation of the tibia is observed

abnormal maxilla morphology
- the maxillary region is enlarged

increased diameter of radius
- slight thickening of the radius

increased diameter of humerus
- slight thickening of the humerus

abnormal long bone morphology

short radius
- slight shortening of the radius

absent neurocranium
- skull vault fails to form

short humerus
- slight shortening of the humerus

short ulna
- slight shortening of the ulna

vision/eye phenotype

abnormal eye development
- poorly developed eyes

craniofacial phenotype

absent neurocranium
- skull vault fails to form

abnormal cranium morphology
- external nasal processes are reduced

abnormal craniofacial development
- reduced external nasal process
- enlarged maxillary arch

abnormal maxilla morphology
- the maxillary region is enlarged

abnormal ear position
- misplaced ears

abnormal tooth development
- occurs in some mice

cleft palate
- occurs in some mice

digestive/alimentary phenotype

cleft palate
- occurs in some mice

Genotype: Gli3^Xt-J/Gli3^Xt-J
B6.C3-Gli3/J

craniofacial phenotype

abnormal lambdoid suture morphology
- cell proliferation in the lambdoid sutures is increased at E16.5
- synostosis of the lambdoid sutures
- marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures
- the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis

wide sagittal suture
- sagittal suture is initially widened

wide metopic suture
- interfrontal suture is initially widened

abnormal neurocranium morphology
- calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones

endocrine/exocrine gland phenotype

abnormal mammary gland bud morphology
- at E13.5, embryos lack mammary bud 3

abnormal mammary line morphology
- mammary line formation is impaired

growth/size/body region phenotype

increased embryo size
- consistently larger in size than control littermates

homeostasis/metabolism phenotype

edema
- spinal edema as early as E13.5 and in all homozygotes at E14.5

integument phenotype

abnormal epidermis stratum basale morphology
- in E12.5 embryos, cells of the stratum germinativum are cylindrical, slightly enlarged along the width of the mammary line and covered with periderm

abnormal mammary gland bud morphology
- at E13.5, embryos lack mammary bud 3

abnormal mammary line morphology
- mammary line formation is impaired

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance
- Background Sensitivity - homozygotes seldom survive beyond E14.5 on this background

nervous system phenotype

increased forebrain size
- interfrontal and sagittal sutures are initially widened resulting in an expanded forebrain

respiratory system phenotype

abnormal right lung caudal lobe morphology
- reduced width but not length in right caudal lobe

abnormal right lung middle lobe morphology
- right medial lobe of lung sometimes varies in shape

abnormal left lung morphology
- reduced width but not length in left lobe

abnormal right lung accessory lobe morphology
- accessory lobe reduced in both width and length

decreased lung weight
- about 35% less than weights of littermate controls

small lung
- lungs small in all homozygotes from E11.5 onward

skeleton phenotype

abnormal lambdoid suture morphology
- cell proliferation in the lambdoid sutures is increased at E16.5
- synostosis of the lambdoid sutures
- the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis
- marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures

premature lambdoid suture closure
- mutants exhibit bilateral premature fusion of the parietal and interparietal bones across the lambdoid sutures at E18.5; suture fuses between E16.5 and E18.5

wide metopic suture
- interfrontal suture is initially widened

wide sagittal suture
- sagittal suture is initially widened

abnormal neurocranium morphology
- calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones

embryo phenotype

increased embryo size
- consistently larger in size than control littermates

abnormal embryonic tissue morphology
- stratum intermedium is absent in mutants at E11.5

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6J

limbs/digits/tail phenotype

polydactyly
- similar to the phenotype seen in Gli3^Xt-J Gas1^tm2Fan double homozygotes

Genotype: Gli3^Xt-J/Gli3⁺
involves: 129/Sv * C3H/HeJ * C57BL/6

limbs/digits/tail phenotype

polyphalangy
- there is an extra phalange in the first digit

skeleton phenotype

polyphalangy
- there is an extra phalange in the first digit

Genotype: Mc1r^E-so/Mc1r^E-so
involves: C3H

integument phenotype

darkened coat color
- all black except for a few yellow hairs on the perineum

abnormal skin pigmentation
- all skin surfaces are startlingly black

pigmentation phenotype

abnormal skin pigmentation
- all skin surfaces are startlingly black

hyperpigmentation

darkened coat color
- all black except for a few yellow hairs on the perineum

Genotype: Mc1r^E-so/Mc1r⁺
involves: C3H

pigmentation phenotype

hyperpigmentation
- skin is dark, ears and nipples are especially obvious

darkened coat color
- shows epistatic supression of light bellies in mice heterozygous for A^w. white bellied agouti
- appearance is similar to homozygous non-agouti mice
- at maturity flanks are flecked with yellow hairs and bellies may appear dark gray
- yellow perineal hairs are present in the first coat distinguishing heterozygotes from homozygotes by 12 days of age

abnormal skin pigmentation

integument phenotype

darkened coat color
- at maturity flanks are flecked with yellow hairs and bellies may appear dark gray
- shows epistatic supression of light bellies in mice heterozygous for A^w. white bellied agouti
- appearance is similar to homozygous non-agouti mice
- yellow perineal hairs are present in the first coat distinguishing heterozygotes from homozygotes by 12 days of age

abnormal skin pigmentation

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * CD-1

homeostasis/metabolism phenotype

edema
- at E14.5

limbs/digits/tail phenotype

polydactyly
- at E14.5

nervous system phenotype

exencephaly
- at E14.5

skeleton phenotype

abnormal sternum morphology

abnormal xiphoid process morphology
- enlarged at E18.5

Genotype: Gli3^Xt-J/Gli3⁺
C3HeB/FeJ-Mc1r Gli3/J

limbs/digits/tail phenotype

polydactyly
- duplication of digit 1 (thumb polydactyly) of the hindlimbs

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6

limbs/digits/tail phenotype

abnormal phalanx morphology
- Normal - however, ossification occurs at most proximal and distal phalanges
- phalanges in some digits are undivided and longer than those in Gli3^tm2Blnw homozygotes
- rarely extra phalanges element branch from the metatarsals

absent tibia
- at E16.5, in some mice

polydactyly
- at E16.5, some mice have 6 to 8 digits that lacked identity

abnormal digit morphology
- digits have lost their identity with some digits consisting of three phalanges that are usually undivided and longer than those in Gli3^tm2Blnw homozygotes

skeleton phenotype

abnormal phalanx morphology
- phalanges in some digits are undivided and longer than those in Gli3^tm2Blnw homozygotes
- rarely extra phalanges element branch from the metatarsals
- Normal - however, ossification occurs at most proximal and distal phalanges

absent tibia
- at E16.5, in some mice

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ

limbs/digits/tail phenotype

polydactyly
- distal truncations of the forelimb skeleton and loss of the autopod at E14.5

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H/HeJ

limbs/digits/tail phenotype

polydactyly
- in 4 of 17 forelimbs

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H/HeJ * C57BL/6J * C57BL/6NHsd

limbs/digits/tail phenotype

polydactyly
- 12% with unilateral anterior polydactyly involving the hind limbs only

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * NMRI

limbs/digits/tail phenotype

polydactyly
- additional anterior digits are formed but the anterior most digit 1 is lost

References

Additional References

Ting CN; Kohrman D; Burgess DL; Boyle A; Altschuler RA; Gholizadeh G; Samuelson LC; Jang W; Meisler MH. 1994. Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics 136(1):247-54PubMed: 7511123 MGI: J:16317

Additional - Gli3^Xt-J related

Additional - Mc1r^E-so related

Additional - Zeb1^Tw related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
When using the C3HeB/FeJ x STX/Le-Mc1r^E-so Gli3^Xt-J Zeb1^Tw/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001434 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Homozygous for E<so>, Heterozygous or Wild-type for Tw, Heterozygous or Wild-type for Gli3<Xt-J>

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Mc1rE-so

Allele Symbol: Mc1rE-so

Gli3Xt-J

Allele Symbol: Gli3Xt-J

Zeb1Tw

Allele Symbol: Zeb1Tw

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Gli3Xt-J related

Genotype: Mc1rE-so related

Genotype: Zeb1Tw related

Mammalian Phenotype Terms by Genotype

Genotype: Zeb1Tw/Zeb1+B6.Cg-Zeb1

adipose tissue phenotype

hematopoietic system phenotype

homeostasis/metabolism phenotype

immune system phenotype

behavior/neurological phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

Genotype: Zeb1Tw/Zeb1TwSTOCK PCS

behavior/neurological phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

mortality/aging

respiratory system phenotype

skeleton phenotype

craniofacial phenotype

Genotype: Zeb1Tw/Zeb1+involves: C57BL/6J

behavior/neurological phenotype

reproductive system phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

integument phenotype

pigmentation phenotype

Genotype: Zeb1Tw/Zeb1TwNot Specified

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

nervous system phenotype

respiratory system phenotype

skeleton phenotype

taste/olfaction phenotype

Genotype: Gli3Xt-J/Gli3+involves: C3H * CD-1

limbs/digits/tail phenotype

Genotype: Zeb1Tw/Zeb1TwB6.Cg-Zeb1

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

Genotype: Zeb1Tw/Zeb1Twinvolves: C57BL/6J

digestive/alimentary phenotype

growth/size/body region phenotype

craniofacial phenotype

hearing/vestibular/ear phenotype

mortality/aging

respiratory system phenotype

skeleton phenotype

Genotype: Gli3Xt-J/Gli3Xt-Jinvolves: C3H/HeJ * C57BL/6

endocrine/exocrine gland phenotype

integument phenotype

mammalian phenotype

respiratory system phenotype

Genotype: Gli3Xt-J/Gli3Xt-Jinvolves: C3H * CD-1

embryo phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

homeostasis/metabolism phenotype

integument phenotype

limbs/digits/tail phenotype

mortality/aging

Mc1r^E-so

Allele Symbol: Mc1r^E-so

Gli3^Xt-J

Allele Symbol: Gli3^Xt-J

Zeb1^Tw

Allele Symbol: Zeb1^Tw

Genotype: Gli3^Xt-J related

Genotype: Mc1r^E-so related

Genotype: Zeb1^Tw related

Genotype: Zeb1^Tw/Zeb1⁺
B6.Cg-Zeb1

Genotype: Zeb1^Tw/Zeb1^Tw
STOCK PCS

Genotype: Zeb1^Tw/Zeb1⁺
involves: C57BL/6J

Genotype: Zeb1^Tw/Zeb1^Tw
Not Specified

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H * CD-1

Genotype: Zeb1^Tw/Zeb1^Tw
B6.Cg-Zeb1

Genotype: Zeb1^Tw/Zeb1^Tw
involves: C57BL/6J

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * C57BL/6

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H * CD-1

Genotype: Gli3^Xt-J/Gli3^Xt-J
B6.C3-Gli3/J

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6J

Genotype: Gli3^Xt-J/Gli3⁺
involves: 129/Sv * C3H/HeJ * C57BL/6

Genotype: Mc1r^E-so/Mc1r^E-so
involves: C3H

Genotype: Mc1r^E-so/Mc1r⁺
involves: C3H

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * CD-1

Genotype: Gli3^Xt-J/Gli3⁺
C3HeB/FeJ-Mc1r Gli3/J

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H/HeJ

Genotype: Gli3^Xt-J/Gli3⁺
involves: C3H/HeJ * C57BL/6J * C57BL/6NHsd

Genotype: Gli3^Xt-J/Gli3^Xt-J
involves: C3H/HeJ * NMRI

Additional - Gli3^Xt-J related

Additional - Mc1r^E-so related

Additional - Zeb1^Tw related