Exon 4 was disrupted by the insertion of a neomycin resistance gene. The disruption occurred immediately upstream of the active site domains and precludes the processing of exon 11, which is essential for secretion of the protein from the pancreas. Western blot analysis of pancreatic homogenates from homozygous mutant mice showed an absence of protein product, truncated or otherwise. (J:32099)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion
--
1
2
6

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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