a spontaneous mutation results in a single base deletion in exon 7 and frameshift (p.Val391fs/ c.1171delG; NM_013488.2). (J:325578)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6;129P2-B2mtm1Unc/J
Spontaneous
Intragenic deletion
--
1
2
1

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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