This spontaneous single nucleotide deletion (c.6748Gdel) in exon 31, found in the Kunming strain, causes a frameshift and premature stop codon (TAA) in place of valine codon 2250 (p.V2250*fs*1). (J:273686)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
KM/Zzng
Spontaneous
Intragenic deletion
Recessive
1
9
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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