Family Identifier |
NMF339 |
Synonym(s) |
Dstnmf339; Dstdt-37J; C57BL/6J-Dstdt-37J/J; JR#5560 |
Synopsis |
Severely impaired front- and hind limb function.
|
Gene Symbol |
Dst (View MGI Record) |
Gene |
Dystonin |
Allele Symbol |
Dstnmf339 (View MGI Record) |
Allele |
neuroscience mutagenesis facility339 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The mutants are small and their movement ability is severely limited. They move forward mainly by 'robbing' on their belly, since their front limbs are usually bent at the elbow, and their hind limbs lag behind. No muscle tonus is apparent in either front- or hind limbs upon gently pulling a limb, indicating flaccid paralysis of these limbs. A righting reflex is present only in rudimentary form, i.e. it may take a few seconds before the animal can righten itself from a back-lying position; when picked up by their tail, front- and hind limbs come together, the former are pulled backward, the latter move forward. These mice are affected at a young age (average onset 2.8 weeks +/- 1; n=21), and the colony had to be maintained through ovarian transplants; NMF339 is available frozen only.
Because of phenotypic similarity to dystonia musculorum, complementation tests with Dstdt-J/J (JR# 0211) have been performed to determine if NMF339 represents an allele of Dst (Dystonin). Four heterozygote matings (NMF339 x Dstdt-J/J, n=2; Dstdt-J/J) x NMF339, n=2) produced 8 mutants in a total of 30 progeny, suggesting that NMF339 indeed represents a new allele of Dstdt-J/J.
|
Pathology Report |
Standard pathology work-up performed on three mutants at 19 (n=1) or 21 (n=2) days of age showed central chromatolysis in neurons of the brain stem and spinal cord, and dystrophic axons. Myelin degeneration, characterized by myelin figures in the cytoplasm of neurons was noted in the peripheral nerves; small muscle fibers and hypoplastic bone marrow (at 21 days of age) were also observed. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 heterozygous x heterozygous mating resulted in 20 affected mice in a total of 70 progeny. |
Chromosome |
1 |
Molecular Interval |
see Dst |
Map
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STATUS INFORMATION
|
Mutant Status |
Cryopreserved Embryos
|
Comments |
Please note: The majority of frozen NMF embryos is obtained through matings between homozygous (or heterozygous) mutant males and wild-type females; if recovery of mutants is requested, the mice will be shipped as soon as possible following wean without further phenotype or genotype testing. NMF embryos are supplied subject to the General Terms and Conditions of Sale posted at www.jaxmice.jax.org. For prices or further information, please inquire at srp@jax.org or nmf-mice@jax.org.
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Contact e-Mail Address |
nmf-mice@jax.org |