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A nucleotide substitutions in exon 3 resulted in the amino acid substitution of methionine for threonine at position 190 (T190M). This mutation corresponds to the T192M mutation identified in humans with Limb-Girdle Muscular Dystrophy. A floxed neo cassette was inserted upstream of exon 3 and was removed by cre mediated recombination. (J:169291)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
