The majority of exon 2 and all of exon 3 were replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded approximately two thirds of the wild-type protein. While in situ hybridization of homozygous mutant eye sections using a probe for the targeted region indicated an absence of normal transcript, a truncated transcript was identified by Northern blot analysis. (J:75693)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Insertion, Intragenic deletion
--
1
3
1

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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