A genomic fragment encompassing 350 bp of the putative intron 1 and the majority of the putative exon 2 was replaced with an hprt cassette inserted by homologous recombination. The deleted region encoded 19 of the 24 residues of the signal anchor required for membrane translocation. RT-PCR analysis identified mutant transcript in which the putative exon 1 spliced to the putative exon 3. This aberrant splice event results in a frameshift and ultimately a premature stop codon. (J:87125)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Intragenic deletion
--
1
1
15

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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