This mutation arose spontaneously in an ES cell line during a targeted mutagenesis experiment for an unrelated gene (insulin receptor). This mutation consists of a large deletion spanning about a 46.7 kb interval that includes the entire sequences of AI646023 and Ggt1 and the first exon and part of the first intron of Ggt5. (J:156192)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129S/SvEv
Spontaneous
Intergenic deletion, Intragenic deletion
Recessive
--
--
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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