Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Abca12tm1Shzu
Name:	ATP-binding cassette, sub-family A member 12; targeted mutation 1, Hiroshi Shimizu
MGI ID:	MGI:3809668
Synonyms:	Abca12Lx12
Gene:	Abca12  Location: Chr1:71282249-71454069 bp, - strand  Genetic Position: Chr1, 35.81 cM
Alliance:	Abca12tm1Shzu page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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

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)