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This ENU induced mutation has been identified as an A-to-T transversion in exon 5, at nucleotide position 952 of the cDNA sequence (transcript Mef2c-202; ENSMUST00000163888), resulting in replacement of aspartic acid by valine at amino acid position 125 of the protein (D125V). (J:104190)
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
