A portion of exon 2 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded transmembrane domains 6 and 7 (amino acids 217 through 275). Two aberrant transcripts were detected in mutant mice by Northern blot and RT-PCR analyses. Analysis indicated that a 613 bp transcript resulted from readthrough of the neo cassette and a 380 bp transcript underwent splicing of codon 198 to exon 3. Biochemical analysis, based on pH recover after an acute acid load, of acinar cells indicated a functional ablation of the endogenous protein. (J:54705)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Intragenic deletion
--
1
1
21

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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