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EN
The mutation has been identified as a C to A transition at nucleotide position 4192 of the cDNA (ENSMUST00000026590). It replaces a triplet encoding serine at amino acid (aa) position 1396 of the 2680 aa protein with a stop codon (S1392Ter). (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
