A gene trap vector consisting of LTR sites flanking a beta-geo cassette containing a splice acceptor and a PGK-puro cassette containing a splice donor inserted into exon 1 of the endogenous gene, 168 nucleotides downstream of the start codon. The integration generated a nonsense mutation at codon 57, precluding the translation of ~79% (207 residues) of the protein, including the functionally conserved asparagine-proline-alanine motifs located at codons 68-70 and 184-186. Northern and Western blot analyses indicated an absence of normal transcript and protein in homozygous mutant mice. (J:84775)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S5/SvEvBrd
Gene trapped
Insertion of gene trap vector
--
1
8
14

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

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PMID
Journal
Year
IF
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