STRAIN INFORMATION
Family Identifier
 NMF203
Synonym(s)
 Dstnmf203; Dstdt-36J; C57BL/6J-Dstdt-36J/J; JR#4829
Synopsis
 Mutants are small and show abnormal gait with splayed hind limbs.
Gene Symbol
 Dst (View MGI Record)
Gene
 Dystonin
Allele Symbol
 Dstnmf203 (View MGI Record)
Allele
 neuroscience mutagenesis facility203
Abnormal Assay(s)
 Assay: Overt movement/posture

   Domain(s): Visible Mutants ; Movement/Neuromuscular Function

Assay: Body weight

   Domain(s): Growth/Development
Phenotype Description
 The mutants are small and show splayed hind limbs ('seal-like' gait) by weaning age (mean 3.3 weeks of age +/- 0.6; n=18). The hind limbs are also weak, with intermittent spasms, and the mice move around with great difficulty. Male or female mutants have been produced, though a colony has to be maintained through ovarian transplants. Because of the map position of this mutation, and its phenotypic similarity to dystonia musculorum, complementation tests with Dstdt-J/J (JR# 0211) have been performed to determine if NMF203 represents an allele of Dst (Dystonin). Three heterozygote matings (NMF203 x Dstdt-J/J) produced 10 mutants in a total of 34 progeny (3 n/n of 11; 3 of 13, 4 of 10), suggesting that NMF203 indeed represents a new allele of Dstdt-J/J.
Pathology Report
 Standard pathology work-up on two mutants (22 days of age) showed dystrophic axons in the lumbar spinal cord. Additional staining with Bodian revealed pale staining, misshapen brain stem and motor neurons. Luxol Fast Blue staining revealed degeneration in the peripheral nerves, however double-labeling neuromuscular junctions with Alpha-Bungarotoxin (acetylcholinreceptors), anti-Neurofilament or SV2 (motor neurons) antibodies have not revealed any marked differences between mutant and control animals. An atrophic thymus was also noted in both animals.
HERITABILITY AND MAPPING INFORMATION
Background Strain
 C57BL/6J
Heritability Mode
 Recessive
Heritability Status
 Proven; 3 heterozygote x heterozygote matings produced 8 affected mice in a total of 19 progeny.
Chromosome
 1
Molecular Interval
 see Dst
Map
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. (2) NMF203 have been requested by and distributed to 1 investigator.
Contact e-Mail Address
 nmf-mice@jax.org