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A spontaneous C-to-T point mutation in exon 13 results in premature termination codon at arginine 658 (p.R658*) and the loss of the last 36 amino acids. There is also an insertion/duplication of AGTC in intron 12 between position chr2:130048178-130048179 (GRCm38) (duplication of 130048179-130048182). (J:225940)
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
