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EN
This spontaneous G-to-A mutation at position 53,547,675 (GRCm38) causes an alanine to valine substitution at residue 2160 in the fourth Calx-beta domain. (NM_172862.3:c.6479C>T, p.Ala2160Val) (J:185265, J:222308)
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
