Overview

Also Known As: dreher Jackson

These mice carry a spontaneous mutation at the Lmx1a locus characterized by the appearance of a tiny filament at the tip of the tail which disappears by 2 days after birth leaving either a short tail or distinctly blunted tail. Mutyants also display reduced size of the cerebellum with unusual patterns of folliation, and a delayed development of the righting reflex and hyperactivity.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Lmx1a^dr-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Lmx1a	LIM homeobox transcription factor 1 alpha

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Research Applications

Developmental Biology Research
Neurobiology Research
Sensorineural Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Lmx1a encodes a LIM homeodomain (LIM-hd) protein that is expressed in the roof plate along the neuraxis during CNS development. The Lmx1a^dr-J mutation replaces a conserved cysteine in the LIM1 domain of the protein with a tyrosine (Millonig et al. 2000).

Mice homozygous for Lmx1a^dr-Jare identifiable at birth by a thin filament extending from the end of the tail, which drops off within a few days, and a short or blunt tail. They may also have a head bleb. When fur develops, there may be a white belly spot. Lmx1a^dr-J/Lmx1a^dr-J mice are ataxic and hyperactive and have difficulty righting themselves, and they do not reproduce (Sweet and Wahlsten 1983). They also exhibit circling behavior, are deaf, and have inner ear and vertebral malformations (Manzanares et al. 2000).

Lmx1a^dr-J homozygotes exhibit defects of three classes of anatomic structures: the hindbrain roof plate, neural crest derived tissues, and the axial skeleton. Failure of roofplate development results in absence of dorsal interneurons of the spinal cord and of granule neurons of the cerebellar cortex and failure of the dorsal vertebral neural arches to form (Millonig et al. 2000). The cerebellum is smaller than normal, in some cases virtually absent, and exhibits disrupted foliation (Sweet and Wahlsten 1983; Sekiguchi et al. 1992). The cytoarchitectural organization of the neocortex, the hippocampus and the dentate gyrus is disrupted (Sekiguchi et al. 1992, 1993, 1994, 1996). Skeletal anomalies include abnormal neural crest derived cranial bones and improper fusion of cervical and thoracic vertebrae at the dorsal midline (Mananares et al. 2000). Deafness may be the consequence of "serious morphogenetic defects of the otic vesicle due to the dorsal neural tube abnormalities," perhaps augmented by "abnormal sensory and motor projections" in the region of rhombomeres 4-6 (Manzanares et al. 2000). Although they have no external or behavioral phenotype, 50% of heterozygotes exhibit histological pathology of the hippocampus qualitatively similar, but less extensive, than that of homozygotes (Patrylo et al. 1990).

Development

The Lmx1a^dr-J mutation, originally called sst^J and later known as dr^sst-J and as dr^J, arose in the C3FeB6-A/A^w-J-ank colony in the Mouse Mutant Stocks Center at The Jackson Laboratory (Sweet and Wahlsten 1983). Since its discovery, it has been maintained by crossing ovary transplant recipients to B6C3Fe-a/a males; the black coat color of the present background makes it easy to distinguish pups derived from the transplanted ovary from any that might result from residual host ovarian tissue. Identification of the alleles for markers flanking Lmx1a in Lmx1a^dr-J/Lmx1a^dr-J progeny of B6C3Fe a/a-Lmx1a^dr-J/J pairs demonstrated that the mutation occurred on the C3H chromosome (Millonig et al. 2000).

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)	nonagouti; a
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)	agouti signal protein; As; ASP; As; agouti; agouti suppressor; AGTI; SHEP9; AGSW; AGTIL
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Lmx1a^dr-J

Allele Symbol: Lmx1a^dr-J

Allele Name	dreher Jackson
Allele Type	Spontaneous
Allele Synonym(s)	dreher Jackson; Lmx1a^dr-J
Gene Symbol and Name	Lmx1a, LIM homeobox transcription factor 1 alpha
Gene Synonym(s)	dreher; sst; LMX1; LMX1.1; shaker short-tail; dr; shaker short-tail; Lmx1.1
Strain of Origin	C3FeB6 A/A^w-J-Ank^ank/J
Chromosome	1
Molecular Note	A G-to-A transition mutation results in a conserved cysteine to a tyrosine amino acid change in the LIM1 domain of the encoded protein. The conserved cysteine is thought to be required for coordination of zinc that is essential for the function of the LIM domain, and thus the transcriptional activity of the protein.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Lmx1a^dr-J related

Developmental Biology Research
- Craniofacial and Palate Defects
- Neural Tube Defects
Neurobiology Research
- Cerebellar Defects
- Neural Tube Defects
- Hearing Defects
- Vestibular Defects
Sensorineural Research
- Hearing Defects
- Vestibular Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
B6.Cg-Lmx1a

mortality/aging

prenatal lethality, complete penetrance
- Background Sensitivity - in C57BL/6 background, no live-born homozygotes are generated
- Background Sensitivity - shorter life span than wild-type in original mixed background

Genotype: Lmx1a^dr-J/Lmx1a⁺
B6.Cg-Lmx1a

integument phenotype

belly spot
- Background Sensitivity - in C57BL/6 background, a white patch of variable size in the coat on the belly
- Background Sensitivity - in C57BL/6 background, white spotting trait became fully penetrant

pigmentation phenotype

belly spot
- Background Sensitivity - in C57BL/6 background, a white patch of variable size in the coat on the belly
- Background Sensitivity - in C57BL/6 background, white spotting trait became fully penetrant

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
involves: C3H * C57BL/6

behavior/neurological phenotype

circling

head tossing

hearing/vestibular/ear phenotype

deafness

integument phenotype

belly spot
- a complete white belt around trunk with some variability

mortality/aging

postnatal lethality
- Background Sensitivity - initial breeding experiments in mixed background generated many live born homozygous pups
- Background Sensitivity - shorter life span than wild-type in original mixed background

nervous system phenotype

abnormal cerebellar foliation
- disruptions in foliation are found
- islands of both granule and Purkinje cells or just granule cells are observed
- there are mixtures of normal and abnormal laminated structure

abnormal cerebellum development
- the cerebellum is almost completely absent

abnormal cerebellum morphology

abnormal glossopharyngeal ganglion morphology
- much reduced glossopharyngeal ganglion

abnormal glossopharyngeal nerve morphology
- an accessory branch originating in the glossopharyngeal/vagus region projects abnormally

abnormal hippocampus CA3 region morphology
- pyramidal layer forms widely dispersed arrangements in this area
- there is aberrant cholinergic activity

abnormal hippocampus development

abnormal hippocampus pyramidal cell layer
- abnormal acetylcholinesterase activity is found in the ectopic pyramidal cells
- forms widely dispersed arrangements in CA3 region
- there are ectopically located pyramidal cells in the stratum radiatum and stratum oriens

abnormal rhombomere 3 morphology
- r3 is deformed and bends posteriorly

abnormal rhombomere 4 morphology
- Normal - however, the ventral region of r4 is normal, as shown by proper migration of the facial motor neurone population along the midline into r5
- the dorsal/lateral domains of r4 are compressed or reduced in width

abnormal rhombomere 5 morphology
- r5 is broadened and not separated at the midline into two bilateral domains as seen in wild-type embryos

abnormal rhombomere morphology
- Normal - however, hindbrain segmentation and territories posterior to r6 are not affected
- significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos

abnormal roof plate morphology
- defective roof plate formation in the hindbrain

spina bifida
- in vertebrae T9-T13

cellular phenotype

abnormal cell migration
- abnormal neuronal migration contributes to abnormal cerebellum development

abnormal cell physiology
- an abnormal distribution of acetylcholinesterase is found in the hippocampus

abnormal cell proliferation
- disruption of cell proliferation contributes to abnormal cerebellum development

pigmentation phenotype

belly spot
- a complete white belt around trunk with some variability

skeleton phenotype

abnormal interparietal bone morphology
- the shape and ossification is severely disrupted

abnormal parietal bone morphology
- highly disorganized lamboid suture
- the shape of the parietal bone is affected

abnormal vertebral arch development
- delay in fusion of the arches in C2 and C3
- failure in dorsal fusion of vertebrae T9-T13 causing grossly altered neural arches
- neural arches in C1 fail to form along the dorsal midline

synostosis
- occasional synostosis of the cranial vault along the interface of the interparietal and supraoccipital bone
- responsible for the blebbing on the head seen in live animals

craniofacial phenotype

abnormal interparietal bone morphology
- the shape and ossification is severely disrupted

abnormal parietal bone morphology
- highly disorganized lamboid suture
- the shape of the parietal bone is affected

embryo phenotype

abnormal rhombomere 3 morphology
- r3 is deformed and bends posteriorly

abnormal rhombomere 4 morphology
- Normal - however, the ventral region of r4 is normal, as shown by proper migration of the facial motor neurone population along the midline into r5
- the dorsal/lateral domains of r4 are compressed or reduced in width

abnormal rhombomere 5 morphology
- r5 is broadened and not separated at the midline into two bilateral domains as seen in wild-type embryos

abnormal rhombomere morphology
- Normal - however, hindbrain segmentation and territories posterior to r6 are not affected
- significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos

abnormal roof plate morphology
- defective roof plate formation in the hindbrain

spina bifida
- in vertebrae T9-T13

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
C3FeB6 A/A-Ank Lmx1a

behavior/neurological phenotype

altered righting response
- a delayed development of the righting reflex

hyperactivity

integument phenotype

belly spot
- white belly spot and feet

limbs/digits/tail phenotype

short tail
- a tiny filament at the tip of the tail seen at birth disappears by 2 days after birth leaving either a short tail or distinctly blunted tail

mortality/aging

preweaning lethality, incomplete penetrance
- preweaning mortality is high

nervous system phenotype

abnormal cerebellar foliation

small cerebellum

pigmentation phenotype

belly spot
- white belly spot and feet

reproductive system phenotype

infertility

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
involves: C3HeB/Fe * C57BL/6

nervous system phenotype

abnormal cerebellum development
- at E12.5, reduced proliferation is observed in the cerebellar anlage

References

Additional References

Sekiguchi M; Nowakowski RS; Shimai K; Huang G; Inoue T; Abe H. 1993. Abnormal distribution of acetylcholinesterase activity in the hippocampal formation of the dreher mutant mouse. Brain Res 622(1-2):203-10PubMed: 8242357 MGI: J:14476
Sekiguchi M; Shimai K; Guo H; Nowakowski RS. 1992. Cytoarchitectonic abnormalities in hippocampal formation and cerebellum of dreher mutant mouse. Brain Res Dev Brain Res 67(1):105-12PubMed: 1638738 MGI: J:1460
Sekiguchi M; Abe H; Shimai K; Huang G; Inoue T; Nowakowski RS. 1994. Disruption of neuronal migration in the neocortex of the dreher mutant mouse. Brain Res Dev Brain Res 77(1):37-43PubMed: 8131261 MGI: J:17085
Sekiguchi M; Abe H; Nagato Y; Tanaka O; Guo H; Nowakowski RS. 1996. The abnormal distribution of mossy fiber bundles and morphological abnormalities in hippocampal formation of dreher(J) (dr(J)/dr(J))mouse. Brain Res Dev Brain Res 92(1):31-8PubMed: 8861720 MGI: J:32558
Manzanares M; Trainor PA; Ariza-McNaughton L; Nonchev S; Krumlauf R. 2000. Dorsal patterning defects in the hindbrain, roof plate and skeleton in the dreher (dr(J)) mouse mutant Mech Dev 94(1-2):147-56PubMed: 10842066 MGI: J:63181
Millen KJ; Millonig JH; Hatten ME. 2004. Roof plate and dorsal spinal cord dl1 interneuron development in the dreher mutant mouse. Dev Biol 270(2):382-92PubMed: 15183721 MGI: J:92188

Additional - a related

Additional - Lmx1a^dr-J related

Technical Support

Contact Technical Support

Genotyping Protocols
- End Point Analysis:Lmx1a^dr-J
- Genotyping resources and troubleshooting
Appearance
- black (may have white belly spot), circling, ataxic, short tail
  Related Genotype: a/a Lmx1a^dr-J/Lmx1a^dr-J
  
  black, unaffected
  Related Genotype: a/a Lmx1a^dr-J/+ or a/a ?/+
Citation
When using the dreher Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000636 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	Genotype	Price
	Heterozygous or Homozygous or Wild-type for Lmx1a<dr-J>, 1 pair minimum

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

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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.

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Also Known As: dreher Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

a

Allele Symbol: a

Lmx1adr-J

Allele Symbol: Lmx1adr-J

Disease Terms

Research Areas By Genotype

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

Genotype: Lmx1adr-J related

Mammalian Phenotype Terms by Genotype

Genotype: Lmx1adr-J/Lmx1adr-JB6.Cg-Lmx1a

mortality/aging

Genotype: Lmx1adr-J/Lmx1a+B6.Cg-Lmx1a

integument phenotype

pigmentation phenotype

Genotype: Lmx1adr-J/Lmx1adr-Jinvolves: C3H * C57BL/6

behavior/neurological phenotype

hearing/vestibular/ear phenotype

integument phenotype

mortality/aging

nervous system phenotype

cellular phenotype

pigmentation phenotype

skeleton phenotype

craniofacial phenotype

embryo phenotype

Genotype: Lmx1adr-J/Lmx1adr-JC3FeB6 A/A-Ank Lmx1a

behavior/neurological phenotype

integument phenotype

limbs/digits/tail phenotype

mortality/aging

nervous system phenotype

pigmentation phenotype

reproductive system phenotype

Genotype: Lmx1adr-J/Lmx1adr-Jinvolves: C3HeB/Fe * C57BL/6

nervous system phenotype

References

Additional References

Additional - a related

Additional - Lmx1adr-J related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Lmx1a^dr-J

Allele Symbol: Lmx1a^dr-J

Genotype: Lmx1a^dr-J related

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
B6.Cg-Lmx1a

Genotype: Lmx1a^dr-J/Lmx1a⁺
B6.Cg-Lmx1a

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
involves: C3H * C57BL/6

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
C3FeB6 A/A-Ank Lmx1a

Genotype: Lmx1a^dr-J/Lmx1a^dr-J
involves: C3HeB/Fe * C57BL/6

Additional - Lmx1a^dr-J related