Family Identifier |
NMF310 |
Synonym(s) |
Clcn1nmf310; C57BL/6J-Clcn1adr-mto6J/J; Clcn1adr-mto6J; JR#5253 |
Synopsis |
Intermittent loss of hind limb function (myotonia).
|
Gene Symbol |
Clcn1 (View MGI Record) |
Gene |
Chloride channel 1 |
Allele Symbol |
Clcn1nmf310 (View MGI Record) |
Allele |
neuroscience mutagenesis facility310 |
Abnormal Assay(s) |
Assay: Overt movement/posture
Domain(s): Visible Mutants
; Movement/Neuromuscular Function
|
Phenotype Description |
The hind limbs of these mutants lose function intermittently, i.e. both or one or the other hind leg may lag behind, or may be stretched to the side or front during movement (average onset 4.6 +/- 0.8 weeks of age; n=15). These episodes usually last less than a minute, and the mice then move around quite normally. Front limbs appear to be affected to a lesser degree. When the mutants are lifted up by their tail, the hind legs come together and point down- or backwards. Mutants do not breed and the colony has to be maintained through ovarian transplants. Because of the phenotypic similarity to that observed following mutations of the Clcn1 (Chloride channel 1) gene, complementation tests between NMF310 and Clcn1adr-mto were conducted. The results of heterozygous x heterozygous matings (NMF310 x JR#1265 BALB/cByj-Clcn1adr-mto2J/J), i.e. 6 affected mice in a total of 29 progeny, suggest that NMF310 represents an allele of Clcn1.
(View video)
|
Pathology Report |
Standard pathology work-up on one mutant (88 days of age) revealed no abnormalities. |
HERITABILITY AND MAPPING INFORMATION
|
Background Strain |
C57BL/6J |
Heritability Mode |
Recessive |
Heritability Status |
Proven; 2 heterozygous x heterozygous matings produced 8 affected mice in a total of 21 progeny. |
Chromosome |
6 |
Molecular Interval |
see Clcn1 |
Map
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STATUS INFORMATION
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Mutant Status |
Cryopreserved Embryos
|
Comments |
(10) NMF310 have been requested by and distributed to 1 investigator.
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Contact e-Mail Address |
nmf-mice@jax.org |