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Afap1l2tm1.1Mliu
Targeted Allele Detail
Summary
Symbol: Afap1l2tm1.1Mliu
Name: actin filament associated protein 1-like 2; targeted mutation 1.1, Mingyao Liu
MGI ID: MGI:5694611
Synonyms: XB130-
Gene: Afap1l2  Location: Chr19:56900793-56996660 bp, - strand  Genetic Position: Chr19, 52.04 cM
Alliance: Afap1l2tm1.1Mliu page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:223478
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of exon 7 and a Frt-flanked neo cassette with 3' loxP sequence were inserted downstream of exon 7. Cre-mediated recombination was used in an attempt to remove the neo cassette and exon 7. However, RT-PCR shows the expression of a longer transcript than in wild-type mice and sequencing shows that exon 7 is not deleted in transcripts and instead exon 6 and loxP sequence are inserted between exon 7 and exon 8. The insertion induces frame-shift mutations and causes translation termination at the breakpoint. Western blotting confirmed absence of protein in the spleen and the lung, indicating a null allele. (J:223478)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Afap1l2 Mutation:  44 strains or lines available
References
Original:  J:223478 Zhao J, et al., XB130 deficiency affects tracheal epithelial differentiation during airway repair. PLoS One. 2014;9(10):e108952
All:  3 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