Part of intron 1 and the first part of the coding sequence in exon 2, which includes the initiation sequence and the codons for the first 44 amino acids, were replaced with an IRES and a betageo fusion gene. This removes the highly conserved QUA1 domain in the encoded protein. Absence of transcription of the endogenous gene was demonstrated by RT-PCR. Beta-galactosidase is expressed from this allele. (J:88215)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
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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