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

Symbol:	Scp2tm1Usee
Name:	sterol carrier protein 2, liver; targeted mutation 1, Udo Seedorf
MGI ID:	MGI:1857809
Synonyms:	Scp2 -
Gene:	Scp2  Location: Chr4:107901027-108002168 bp, - strand  Genetic Position: Chr4, 50.2 cM
Alliance:	Scp2tm1Usee page

Germline Transmission:	Earliest citation of germline transmission: J:47280
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Exon 14 was disrupted by the insertion of a neomycin cassette. Sequence analysis of truncated transcript identified by Northern analysis, showed that an aberrant splice pattern resulted in the excision of exon 14. The joining of exons 13 and 15 resulted in a frameshift mutation which introduced a stop codon in exon 15, upstream of an essential peroxisomal targeting signal. Western analysis revealed an absence of normal protein in the livers of homozygous mutant mice. (J:47280)

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

In Structures Affected by this Mutation:

2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Scp2 Mutation:	59 strains or lines available

Original:	J:47280 Seedorf U, et al., Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function. Genes Dev. 1998 Apr 15;12(8):1189-201
All:	5 reference(s)