Family Identifier |
NMF352 |
Synonym(s) |
Cacna1anmf352; Cacna1atg-6J; B6;CByJ-Cacna1atg-6J/J; JR#5520 |
Synopsis |
The mutants are small, weak hind limbs, and intermittent loss of hind limb function. |
Gene Symbol |
Cacna1a (View MGI Record) |
Gene |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
Allele Symbol |
Cacna1anmf352 (View MGI Record) |
Allele |
neuroscience mutagenesis facility352 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The mutants are small and move slowly. Their hind limbs appear to be weak, and barely support their efforts of walking, so that the mice frequently loose their balance. Hind limbs also show intermittent spasms, with extension to the side or backward; there is no noticeable withdrawl reflex when gently pulling a leg. When lifting mutants by their tail, the hind limbs remain close to the body. The average onset of the phenotype is at 3 weeks of age (3.2 +/- 0.6 weeks; n=92). These mutants are fragile and may not live to full maturity; a colony has to be maintained through ovarian transplants and heterozygote x heterozygote matings. Because of phenotype similarities to Cacna1atg (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
), the tottering mutant, complementation tests were performed between nmf352 and B6.D2-Cacna1atg/J (JR#0544). The results, 3 mutants in a total of 5 progeny, indicate that NMF352 represents an allele of Cacna1atg.
|
Pathology Report |
Standard pathology work-up on six mutants (22 days of age) revealed no abnormalities, except an atrophic thymus and hypoplastic bone marrow in two animals,
and a loss of red pulp in the spleen of one of these two animals.
|
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
B6;CByJ |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 different heterozygote x heterozygote matings produced 7 mutants in a total of 29 progeny. |
Chromosome |
8 |
Molecular Interval |
see Cacna1a |
Map
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
(8) NMF352 have been requested by and distributed to 1 investigators. This has line has now been back-crossed (to BALB/cByJ) beyond the N5 generation and off-spring should be considered congenic. |
Contact e-Mail Address |
nmf-mice@jax.org |