This allele contains a 2.6 kb deletion of a region containing exons 1 and 2 and ~1 kb of the sequence upstream of exon 1. mRNA expressed from this allele was not detected in colon and lung from both hemizygous males and homozygous females in contrast to wild-type controls. No encoded protein was found in colon and lung from homozygous females as evident from immunofluorescence studies. The mRNA was not detectable in normal wild-type mouse mammary gland. In colon and lung of homozygous females, there were no major compensatory changes in the expression of any of the 12 amino acid transporter mRNAs examined. (J:226105)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Intragenic deletion
--
1
2
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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