468 bp of endogenous sequence in exon 1 was replaced with a 39 bp intracisternal A particle (IAP) sequence resulting in a new translation initiation methionine codon and substitution of 7 new amino acids for 10 endogenous amino acids at the N-terminus (MRQLCRGRVL becomes MWGRLPT). No gain of function effect is observed as in other spontaneous mutations derived from IAP insertion. (J:137593)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeSn-Rab27aash/JRos
Spontaneous
Insertion, Intragenic deletion
--
1
--
4

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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