Family Identifier |
NMF205 |
Synonym(s) |
C57BL/6J-nmf205/J; JR#4823 |
Synopsis |
The mutants show an unsteady gait, weak hind limbs.
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Gene Symbol |
nmf205 (View MGI Record) |
Gene |
neuroscience mutagenesis facility205 |
Allele Symbol |
nmf205 (View MGI Record) |
Allele |
neuroscience mutagenesis facility205 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
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Phenotype Description |
The animals exhibit an unsteady gait, with 'high' hind limbs (walking on hind toes), which can be observed at approximately 4 weeks of age (mean 4.6+/-0.7; n=21, but as early as 3 weeks of age); the impairment progresses over time, i.e. hind limbs become weaker, and the animals show a staggering gait. The colony is maintained through ovarian transplants. Because of phenotypic similarities to NMF291, allele tests between NMF205 and NMF291 were performed but did not produce any affected mice.
(View video)
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Pathology Report |
Standard pathology work-up on four mutants (38 to 51 days of age) revealed loss of cerebellar granule cells in all four animals and cortical laminar necrosis in three animals.
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HERITABILITY AND MAPPING INFORMATION
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Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 5 heterozygote x heterozygote matings produced 11 affected mice in a total of 45 progeny. |
STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
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Comments |
Please note: 1-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- While this mutation is available, it has not yet been chromosomally mapped - an important part of determining whether it is allelic with a previously characterized mutation. (30) NMF205 have been requested by and distributed to 2 investigators. |
Contact e-Mail Address |
nmf-mice@jax.org |