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Three point mutations were introduced into exon 2 using a "hit and run" type vector. One mutation (C795T; numbering based on MGI ID: D16388) introduces an in-frame stop codon (R242X) that is predicted to stop translation at the beginning of the third cytoplasmic loop of the receptor, resulting in a nonfunctional protein. The other two mutations (C798G; G799A) introduce an EcoRI site that is used for genotyping. Sequencing of mRNA confirmed expression of the mutant allele in homozygous mice. Expression of the PKN1 gene present on the opposite antisense strand was unaffected as determined by immunoprecipitation of brain and kidney lysates. (J:127410)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
