Nucleotide 409 was changed from a C to T in exon 3 and a self-excising neo cassette was inserted in intron 3 deleting 23 bp of sequence via homologous recombination. The mutation in exon 3 changes an arginine into a stop codon. RNA in situ hybridization showed a 70% reduction in mRNA expression in pancreatic islets from homozygous mice. However, western blot analysis failed to detect any protein in this tissue in homozygous mice. This mutation is analogous to the human p.Arg138* variant. (J:264368)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Intragenic deletion, Single point
--
1
1
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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