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Pafah1b1Gt(IRESBetageo)1Hha
Gene trapped Allele Detail
Summary
Symbol: Pafah1b1Gt(IRESBetageo)1Hha
Name: platelet-activating factor acetylhydrolase, isoform 1b, subunit 1; gene trap 1, Hans-Henning Arnold
MGI ID: MGI:2683481
Synonyms: LIS1GT/GT
Gene: Pafah1b1  Location: Chr11:74564775-74615210 bp, - strand  Genetic Position: Chr11, 45.76 cM, cytoband B3
Alliance: Pafah1b1Gt(IRESBetageo)1Hha page
Testis abnormalities in Pafah1b1Gt(IRESBetageo)1Hha/Pafah1b1Gt(IRESBetageo)1Hha mice

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:86720
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Gene trapped (Null/knockout, Reporter)
Mutation:    Insertion of gene trap vector
 
Mutation detailsThe expression of a testis-specific transcript was abrogated by the integration a gene trap vector into the endogenous locus. The vector inserted into intron 2 and consisted of an engrailed 2 intron, IRES, and beta-geo. RT-PCR analysis showed the level of a testis-specific transcript, containing exon 2a, to be markedly diminished in homozygous mutant mice. While protein was detected in homozygous mutant brain tissue by Western blot analysis, it was absent in the testes of mutant mice. (J:86720)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 51 assay results
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pafah1b1 Mutation:  160 strains or lines available
References
Original:  J:86720 Nayernia K, et al., Inactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertility. J Biol Chem. 2003 Nov 28;278(48):48377-85
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory