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Alms1Gt(XH152)Byg
Gene trapped Allele Detail
Summary
Symbol: Alms1Gt(XH152)Byg
Name: ALMS1, centrosome and basal body associated; gene trap XH152, BayGenomics
MGI ID: MGI:3576051
Synonyms: Alms1-, Alms1Gt(pGT1Lxf)1Pjn
Gene: Alms1  Location: Chr6:85564513-85679735 bp, + strand  Genetic Position: Chr6, 37.48 cM
Alliance: Alms1Gt(XH152)Byg page
Mutation
origin
Mutant Cell Line:  XH152
Germline Transmission:  Earliest citation of germline transmission: J:100403
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Gene trapped (Hypomorph)
Mutation:    Insertion of gene trap vector     Vector: pGT1Lxf     Vector Type: gene trap
 
Mutation detailsA gene trap vector (pGT1Lxf) containing a splice acceptor, lacZ and neomycin resistance gene was inserted into intron 13. RT-PCR showed strong expression upstream of the inserted cassette, however, expression downstream of exon 13 was not detected in mutants. Slight traces of normally spliced exon 13-14 were detected in mutants, suggesting the disruption might have resulted in a hypomorphic allele. (J:100403)
Sequence Tags: 
Sequence tag details (1 tag)
Genome Context: 
Genome Browser view of this mutation
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 19 assay results
In Structures Affected by this Mutation: 11 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 Alms1 Mutation:  149 strains or lines available
Notes
All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.
References
Original:  J:100403 Collin GB, et al., Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet. 2005 Aug 15;14(16):2323-33
All:  8 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
04/23/2024
MGI 6.23
The Jackson Laboratory