Family Identifier |
NMF261 |
Synonym(s) |
Spnb4nmf261; A.B6 Tyr+-Spnb4qv-7J/J; JR#5098 |
Synopsis |
The mutants have weak hind limbs, body tremor. |
Gene Symbol |
Spnb4 (View MGI Record) |
Gene |
spectrin beta 4 |
Allele Symbol |
Spnb4nmf261 (View MGI Record) |
Allele |
neuroscience mutagenesis facility261 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
This phenotype becomes visible at 4 weeks of age (+/- 0.4, n=14); the mutants are smaller than their littermates and have difficulty supporting their weight on their hind limbs, which they drag intermittently. Mobility is limited but the mice are able to move around slowly. When the mice are lifted by their tail, the hind limbs may show typical extension intially but then are quickly clasped to the body. Male or female mutants have been produced, however, a colony has to be maintained through ovarian transplants.
Mapping results showed NMF261 to be nonrecombinant with D7Mit266 +/- 5.5 cM (one-sided 95% confidence limit; n=19 affected, n=14 unaffected F2); however, further information was obtained through a complementation test with Spnb4 (spectrin beta 4, old symbol qv, Jax# 001769), i.e.the results of one heteozygote mating between NMF261 and Spnb4qv-lnd/J resulted in 2 affected mice in a total of 8 progeny, suggesting NMF261 to be an allele of Spnb4.
(View video)
|
Pathology Report |
Standard pathology work-up on three mutants (43, 49, or 88 days of age) revealed no abnormalities; whole muscle mounts of the hind limb of the older mouse stained with fluorescent-labeled bungarotoxin, SV2, and SMI 31 also revealed no abnormalities. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
A.B6 Tyr+ |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 heterozygote x heterozygote matings resulted in 6 affected mice in a total of 31 progeny. |
Chromosome |
7 |
Molecular Interval |
see Spnb4 |
Map
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
(13) NMF261 have been requested by and distributed to 3 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |