This allele comprises a G-to-A substitution at coding nucleotide 2995 in exon 15 creating a missense mutation that alters codon 999 from an alanine to a threonine in a conserved region of the transduction domain of the encoded protein. (J:39098)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
CBA/J
Spontaneous
Single point
Semidominant
1
4
3

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

References Literature

Title
PMID
Journal
Year
IF
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