A 6 kb region of the gene encompassing exon 2 was replaced with an HPRT-loxP-neo cassette via homologous recombination resulting in deletion of 32 amino acids from the smaller of 2 open reading frames. The larger downstream open reading frame remains intact. RT-PCR analysis of heterozygous mutant animals showed expression of only wild-type transcripts in mice carrying a maternally derived mutation, and in mice carrying a paternally derived mutation the mutant transcript and transcripts of the neo gene are expressed. The deletion does not affect maternal-paternal imprinting of the DNA. (J:56617)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S7/SvEvBrd-Hprt1b-m2
Targeted
Insertion, Intragenic deletion
--
1
6
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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