JAX
Mouse Strain Datasheet - 000026
B6.C3-Gli3Xt-J/J
Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans.
Genetic overview
| Genetic Background | Generation |
|---|---|
|
000664 C57BL/6J |
|
Gli3Xt-J
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Gli3 | GLI-Kruppel family member GLI3 |
Research Applications
- Developmental Biology Research
- Neurobiology Research
- Sensorineural Research
Detailed Description
Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans.
Control Suggestions
Gli3Xt-J
Allele Symbol: Gli3Xt-J
| Allele Name | extra toes Jackson |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | Gli3-; Gli3Xt; Gli3XtJ; Gli3delta; XtJ; XtJ; extra-toes J; xt |
| Gene Symbol and Name | Gli3, GLI-Kruppel family member GLI3 |
| Gene Synonym(s) | ACLS; AI854843; AU023367; Bph; Bph; GCPS; GLI3-190; GLI3FL; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV; Pdn; Xt; add; anterior digit pattern deformity; brachyphalangy; brachyphalangy; expressed sequence AI854843; expressed sequence AU023367; extra toes; polydactyly Nagoya |
| 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. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Gli3Xt-J related
- Developmental Biology Research
- Neural Tube Defects
- Skeletal Defects
- Neurobiology Research
- Neural Tube Defects
- Sensorineural Research
- Cataracts
- diffuse
- Eye Defects
- Cataracts
Mammalian Phenotype Terms by Genotype
Genotype: Gli3Xt-J/Gli3Xt-J
B6.C3-Gli3Xt-J/J
mortality/aging
- embryonic lethality during organogenesis, incomplete penetrance
- Background Sensitivity - homozygotes seldom survive beyond E14.5 on this background (MGI Ref ID J:42454)
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 (MGI Ref ID J:109476)
- abnormal mammary gland bud morphology
- at E13.5, embryos lack mammary bud 3 (MGI Ref ID J:109476)
- abnormal mammary line morphology
- mammary line formation is impaired (MGI Ref ID J:109476)
endocrine/exocrine gland phenotype
- abnormal mammary gland bud morphology
- at E13.5, embryos lack mammary bud 3 (MGI Ref ID J:109476)
- abnormal mammary line morphology
- mammary line formation is impaired (MGI Ref ID J:109476)
respiratory system phenotype
- abnormal left lung morphology
- reduced width but not length in left lobe (MGI Ref ID J:42454)
- abnormal right lung accessory lobe morphology
- accessory lobe reduced in both width and length (MGI Ref ID J:42454)
- abnormal right lung caudal lobe morphology
- reduced width but not length in right caudal lobe (MGI Ref ID J:42454)
- abnormal right lung middle lobe morphology
- right medial lobe of lung sometimes varies in shape (MGI Ref ID J:42454)
- decreased lung weight
- about 35% less than weights of littermate controls (MGI Ref ID J:42454)
- small lung
- lungs small in all homozygotes from E11.5 onward (MGI Ref ID J:42454)
embryo phenotype
- abnormal embryonic tissue morphology
- stratum intermedium is absent in mutants at E11.5 (MGI Ref ID J:109476)
- increased embryo size
- consistently larger in size than control littermates (MGI Ref ID J:42454)
homeostasis/metabolism phenotype
- edema
- spinal edema as early as E13.5 and in all homozygotes at E14.5 (MGI Ref ID J:42454)
growth/size/body region phenotype
- increased embryo size
- consistently larger in size than control littermates (MGI Ref ID J:42454)
craniofacial phenotype
- abnormal cranial suture morphology
- interfrontal suture is initially widened (MGI Ref ID J:163175)
- abnormal lambdoidal suture morphology
- cell proliferation in the lambdoid sutures is increased at E16.5 (MGI Ref ID J:163175)
- marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures (MGI Ref ID J:163175)
- synostosis of the lambdoid sutures (MGI Ref ID J:163175)
- the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis (MGI Ref ID J:163175)
- abnormal neurocranium morphology
- calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones (MGI Ref ID J:163175)
- abnormal sagittal suture morphology
- sagittal suture is initially widened (MGI Ref ID J:163175)
nervous system phenotype
- abnormal forebrain morphology
- interfrontal and sagittal sutures are initially widened resulting in an expanded forebrain (MGI Ref ID J:163175)
skeleton phenotype
- abnormal cranial suture morphology
- interfrontal suture is initially widened (MGI Ref ID J:163175)
- abnormal lambdoidal suture morphology
- cell proliferation in the lambdoid sutures is increased at E16.5 (MGI Ref ID J:163175)
- marker analysis indicates ectopic osteoblast differentiation in lambdoid sutures (MGI Ref ID J:163175)
- synostosis of the lambdoid sutures (MGI Ref ID J:163175)
- the sutural mesenchyme between the parietal and interparietal bones is thicker at E16.5, just before the occurrence of synostosis (MGI Ref ID J:163175)
- abnormal neurocranium morphology
- calvaria is domed shaped and rectangular with an acute angle between the frontal or nasal bones (MGI Ref ID J:163175)
- abnormal sagittal suture morphology
- sagittal suture is initially widened (MGI Ref ID J:163175)
- premature 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 (MGI Ref ID J:163175)
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Gli3Xt-J/Gli3+
involves: C3H * CD-1
limbs/digits/tail phenotype
- abnormal foot plate morphology
- at day 12 of gestation, footpads are enlarged at the area destined to become digit 1 (MGI Ref ID J:4086)
- polydactyly
- display mild preaxial polydactyly in both fore- and hindlimbs (MGI Ref ID J:38381)
Genotype: Gli3Xt-J/Gli3+
involves: C3H/HeJ * C57BL/6J * C57BL/6NHsd
limbs/digits/tail phenotype
- polydactyly
- 12% with unilateral anterior polydactyly involving the hind limbs only (MGI Ref ID J:42445)
Genotype: Gli3Xt-J/Gli3+
C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
limbs/digits/tail phenotype
- polydactyly
- duplication of digit 1 (thumb polydactyly) of the hindlimbs (MGI Ref ID J:27442)
Genotype: Gli3Xt-J/Gli3+
involves: C3H/HeJ
limbs/digits/tail phenotype
- polydactyly
- in 4 of 17 forelimbs (MGI Ref ID J:207959)
Genotype: Gli3Xt-J/Gli3+
involves: 129/Sv * C3H/HeJ * C57BL/6
limbs/digits/tail phenotype
- polyphalangy
- there is an extra phalange in the first digit (MGI Ref ID J:121609)
skeleton phenotype
- polyphalangy
- there is an extra phalange in the first digit (MGI Ref ID J:121609)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6
limbs/digits/tail phenotype
- abnormal digit morphology
- digits have lost their identity with some digits consisting of three phalanges that are usually undivided and longer than those in Gli3tm2Blnw homozygotes (MGI Ref ID J:121609)
- abnormal phalanx morphology
- absent tibia
- at E16.5, in some mice (MGI Ref ID J:121609)
- polydactyly
- at E16.5, some mice have 6 to 8 digits that lacked identity (MGI Ref ID J:121609)
skeleton phenotype
- abnormal phalanx morphology
- absent tibia
- at E16.5, in some mice (MGI Ref ID J:121609)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: C3H/HeJ * CD-1
homeostasis/metabolism phenotype
- edema
- at E14.5 (MGI Ref ID J:152259)
limbs/digits/tail phenotype
- polydactyly
- at E14.5 (MGI Ref ID J:152259)
nervous system phenotype
- exencephaly
- at E14.5 (MGI Ref ID J:152259)
skeleton phenotype
- abnormal sternum morphology
- (MGI Ref ID J:152259)
- abnormal xiphoid process morphology
- enlarged at E18.5 (MGI Ref ID J:152259)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: C3H * CD-1
mortality/aging
- perinatal lethality, complete penetrance
- animals that survive to birth die within 2 days after birth (MGI Ref ID J:4086)
- prenatal lethality, incomplete penetrance
- many mutants die embryonically with a wide range of defects (MGI Ref ID J:4086)
embryo phenotype
- incomplete rostral neuropore closure
- neural tube closure is largely normal, although an opening around the midbrain region is seen (MGI Ref ID J:4086)
integument phenotype
- abnormal vibrissa morphology
- abnormal patterns of mystacial and supra-orbital hair (MGI Ref ID J:4086)
- abnormal vibrissa number
- abnormal number of mystacial and supra-orbital hair (MGI Ref ID J:4086)
growth/size/body region phenotype
- abnormal ear position
- misplaced ears (MGI Ref ID J:4086)
- abnormal tooth development
- occurs in some mice (MGI Ref ID J:38381)
- cleft palate
- occurs in some mice (MGI Ref ID J:38381)
craniofacial phenotype
- abnormal craniofacial development
- abnormal cranium morphology
- external nasal processes are reduced (MGI Ref ID J:38381)
- abnormal ear position
- misplaced ears (MGI Ref ID J:4086)
- abnormal maxilla morphology
- the maxillary region is enlarged (MGI Ref ID J:38381)
- abnormal neurocranium morphology
- skull vault fails to form (MGI Ref ID J:38381)
- abnormal tooth development
- occurs in some mice (MGI Ref ID J:38381)
- cleft palate
- occurs in some mice (MGI Ref ID J:38381)
skeleton phenotype
- abnormal cranium morphology
- external nasal processes are reduced (MGI Ref ID J:38381)
- abnormal long bone morphology
- (MGI Ref ID J:38381)
- abnormal maxilla morphology
- the maxillary region is enlarged (MGI Ref ID J:38381)
- abnormal neurocranium morphology
- skull vault fails to form (MGI Ref ID J:38381)
- abnormal sternum morphology
- sternum is unfused (MGI Ref ID J:38381)
- abnormal tooth development
- occurs in some mice (MGI Ref ID J:38381)
- abnormal vertebral arch morphology
- increased diameter of humerus
- slight thickening of the humerus (MGI Ref ID J:38381)
- increased diameter of radius
- slight thickening of the radius (MGI Ref ID J:38381)
- increased diameter of ulna
- slight thickening of the ulna (MGI Ref ID J:38381)
- short humerus
- slight shortening of the humerus (MGI Ref ID J:38381)
- short radius
- slight shortening of the radius (MGI Ref ID J:38381)
- short tibia
- severe truncation of the tibia is observed (MGI Ref ID J:38381)
- short ulna
- slight shortening of the ulna (MGI Ref ID J:38381)
limbs/digits/tail phenotype
- abnormal foot 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 (MGI Ref ID J:4086)
- increased diameter of humerus
- slight thickening of the humerus (MGI Ref ID J:38381)
- increased diameter of radius
- slight thickening of the radius (MGI Ref ID J:38381)
- increased diameter of ulna
- slight thickening of the ulna (MGI Ref ID J:38381)
- polydactyly
- short humerus
- slight shortening of the humerus (MGI Ref ID J:38381)
- short radius
- slight shortening of the radius (MGI Ref ID J:38381)
- short tibia
- severe truncation of the tibia is observed (MGI Ref ID J:38381)
- short ulna
- slight shortening of the ulna (MGI Ref ID J:38381)
- syndactyly
- present on all feet (MGI Ref ID J:4086)
nervous system phenotype
- abnormal brain morphology
- gross malformations of the brain (MGI Ref ID J:4086)
- exencephaly
- midbrain exencephaly (MGI Ref ID J:4086)
- incomplete rostral neuropore closure
- neural tube closure is largely normal, although an opening around the midbrain region is seen (MGI Ref ID J:4086)
hearing/vestibular/ear phenotype
- abnormal ear position
- misplaced ears (MGI Ref ID J:4086)
homeostasis/metabolism phenotype
- edema
- (MGI Ref ID J:4086)
vision/eye phenotype
- abnormal eye development
- poorly developed eyes (MGI Ref ID J:4086)
digestive/alimentary phenotype
- cleft palate
- occurs in some mice (MGI Ref ID J:38381)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: C3H/HeJ * NMRI
limbs/digits/tail phenotype
- polydactyly
- additional anterior digits are formed but the anterior most digit 1 is lost (MGI Ref ID J:184012)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: C3H/HeJ
limbs/digits/tail phenotype
- polydactyly
- distal truncations of the forelimb skeleton and loss of the autopod at E14.5 (MGI Ref ID J:159210)
Genotype: Gli3Xt-J/Gli3Xt-J
involves: 129/Sv * C3H/HeJ * C57BL/6J
limbs/digits/tail phenotype
- polydactyly
- similar to the phenotype seen in Gli3Xt-J Gas1tm2Fan double homozygotes (MGI Ref ID J:121554)
References
Additional References
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Additional - Gli3Xt-J related
- Ahn S; Joyner AL. 2004. Dynamic changes in the response of cells to positive hedgehog signaling during mouse limb patterning. Cell 118(4):505-16. PubMed: 15315762MGI: J:92507
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