A 1 bp deletion found in an autosomal dominant form of human retinitis pigmentosa was introduced into codon 307 of the mouse gene in conjunction with a loxP-neo cassette situated in the 3' untranslated region (500 bp from the 307 mutation) via homologous recombination. Homozygous mutant animals were identified by PCR genotyping and Southern blot analysis and the presence of the codon 307 mutation was verified by RT-PCR of cDNA from retinas of homozygous mutant animals. (J:76490)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Single point
--
1
20
5

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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