The insertion of a neomycin selection cassette into exon 5 introduced a translational stop codon that results in the truncation of the protein after 82 residues. Northern blot analysis of total RNA isolated from the kidneys and livers of homozygous mutant mice revealed an absence of message. Enzymatic activity was assayed and found to be ablated in kidney, liver, spleen, and brain homogenates. (J:34831)

Basic Information

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