Exon 2, which encodes the initiator methionine and the N-terminal signal peptide, was replaced with a neo cassette. Transcript encoding the heart and kidney isoform was undetected in homozygous mutant mice, however truncated transcript similar to the testis-specific isoform was detected. RT-PCR analsysis indicated that the mutant transcript lacked exon 2. The absence of normal protein was confirmed by FACS analysis of erthrocytes obtained from homozygous mutant mice. (J:76578)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
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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