A restriction fragment encompassing a 3' portion of exon 12 and all of exon 13 was replaced with a neomycin selection cassette inserted by homologous recombination. In addition to disrupting the downstream reading frame, the neo cassette replaces sequence around the junction of exon 13 and 14, which encodes the active site of the first catalytic domain. Protein containing an intact first catalytic domain was undetected by Western blot analysis of homozygous mutant brain lysates. (J:55045)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
1
9

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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