Exons 3 and 4 as well as flanking intron containing GC-rich region upstream of exon 3 (2.4 kb total) are replaced with a PGK-neomycin cassette via homologous recombination. This removed the first 117 amino acids of the encoded protein. A truncated protein is expressed at approximately 50% normal levels. (J:101977)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Intragenic deletion
--
1
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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