Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004134 (
ataxia
)
15,886
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neuromuscular
ataxia
,
nma
, is a new autosomal recessive mutation that arose spontaneously in CBA/J inbred mice at The Jackson Laboratory. The mutation, now maintained on the B6C3FeF(1) hybrid background, when homozygous, causes small size, uncoordinated gait, dysmetria, dystonia, general weakness, and death shortly after weaning. No biochemical or morphological abnormalities have been detected. We used an intercross between the B6C3FeF(1) mutant and CAST/Ei to map the
nma
mutation to the proximal end of Chr 12. The most likely gene order places the mutation between D12Mit270 and D12Mit54, non-recombinant with D12Mit2 in 96 tested meioses.
...
PMID:Neuromuscular ataxia: a new spontaneous mutation in the mouse. 1100 93
