This spontaneous mutation has a G-to-T mutation at chromosome 7 position 19,612,646 (GRCm38) which causes a single amino acid change of glutamine to lysine at residue 331 (p.Q331K). (J:176116, J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cJ x A/J
Spontaneous
Single point
Recessive
1
1
2

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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