Abca12^tm1Shzu
Targeted Allele Detail

Summary

• Symbol: Abca12^tm1Shzu
• Name: ATP-binding cassette, sub-family A member 12; targeted mutation 1, Hiroshi Shimizu
• MGI ID: MGI:3809668
• Synonyms: Abca12^Lx12
• Gene: Abca12 Location: Chr1:71282249-71454069 bp, - strand Genetic Position: Chr1, 35.81 cM
• Alliance: Abca12^tm1Shzu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:139048
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 30 was replaced with a neo cassette. The absence of protein expression was confirmed by western blot analysis on keratinocyte extracts. (J:139048)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Abca12 Mutation: 131 strains or lines available

References

• Original: J:139048 Yanagi T, et al., Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet. 2008 Oct 1;17(19):3075-83
• All: 4 reference(s)