6.1 kb of sequence, encompassing exons 3 through 9, was replaced with a neo cassette. Though wild-type transcript was undetected by Northern blot analysis of RNA isolated from the kidney cortex and medulla and from the jejunum, an aberrant trancscript in which exons 2 and 10 had spliced together was identified. This transcript contains frameshifted sequence and lacks sequence encoding the 12 transmembrane domains. Protein was undetected in homozygous mutant mice by Western blot analysis in both reducing and non-reducing conditions. (J:85462)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
1
4

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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