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EN
Exon 3 was replaced with an exon 3 that contained a nucleotide substitution that resulted in the amino acid substitution of cysteine for histidine at position 77 (H77C), mimicking a mutation associated with limb-girdle muscular dystrophy (LGMD2D) in human. A floxed neo cassette was inserted downstream of exon 3 and was subsequently removed by germ-line, cre-mediated recombination. (J:133929)
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
