Alms1^Gt(XH152)Byg
Gene trapped Allele Detail

Summary

• Symbol: Alms1^Gt(XH152)Byg
• Name: ALMS1, centrosome and basal body associated; gene trap XH152, BayGenomics
• MGI ID: MGI:3576051
• Synonyms: Alms1^-, Alms1^{Gt(pGT1Lxf)1Pjn}
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^Gt(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 details: A 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)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  XH152	CC199534 ; (MGI Seq Detail)	5' RACE	Chr6:85618480-85628396 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  7 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

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: 150 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: 9 reference(s)