A neomycin resistance gene was inserted into exon 5, which encodes amino acids 109 through 154. Northern blot analysis of RNA isolated from colon, lung, and aorta tissue showed the presence of a shortened transcript in homozygous mutant mice. Sequence analysis of the mutant message identified a cryptic donor site in exon 5 that led to the excision of 84 nucleotides encoding amino acids 127 through 154. Transfection of microsomes, showed that the mutant protein product was incapable of calcium-uptake. (J:44333)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
--
6

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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