Gene targeting by double replacement introduced a 1283 bp deletion within intron 1 and a silent single base mutation in exon 7. RT-PCR studies of skin from heterozygous mice detected no change in expression from this allele compared to the wild-type allele. However, in lungs of young heterozygous mice this allele was expressed at about 75% of the level of the wild-type allele; and in lungs of adult mice, expression was reduced to about 50%. RNase protection assays detected a 2-3 fold decrease in mRNA in lungs of homozygous mutant mice. Expression studies determined that the mutated intron was spliced correctly. (J:47669)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Intragenic deletion, Single point
--
1
24
3

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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