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:C0013421 (
dystonia
)
8,418
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
