This is a hypomorphic allele. A neomycin resistance cassette replaced 0.4 kb of sequence, including part of the exon encoding EGF repeat 14, the splice donor site at the 3' end of this exon, and 0.3 kb of intron. mRNA species are detected in homozygous mutant embryos that appear to be the result of inframe splicing around the neomycin cassette. Proteins derived from these transcripts are predicted to have a deletion of one or two EGF repeats. (J:67157)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion, Intragenic deletion
--
1
3
8

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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