ENU induced an A to G transition in exon 1 that results in the amino acid substitution of glycine for glutamic acid at position 26 (E26G). This mutation alters a conserved hydrophilic motif that forms the N-terminus after the signal peptidase cleavage. Expression level and localization are not disrupted. This allele is hypomorphic. (J:191772)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/c x C57BL/6
Chemically induced
Single point
Recessive
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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