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

Symbol:	Ldlrap1tm1Her
Name:	low density lipoprotein receptor adaptor protein 1; targeted mutation 1, Joachim Herz
MGI ID:	MGI:2670480
Synonyms:	Arh-
Gene:	Ldlrap1  Location: Chr4:134468865-134495335 bp, - strand  Genetic Position: Chr4, 67.09 cM
Alliance:	Ldlrap1tm1Her page

Germline Transmission:	Earliest citation of germline transmission: J:84694
Parent Cell Line:	SM1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Exon 4 was replaced with a neomycin selection cassette that was flanked by both loxP and FRT sites. The deletion of exon 4 disrupts sequence encoding the PTB domain. Normal protein was undetected in homozygous mutant mice by Western blot analysis using an antibody directed against the PTB domain. If aberrant splicing were to occur between exons 3 and 5, a frameshift mutation and resultant nonsense mutation would putatively preclude the translation of the clathrin and adapter protein complex (AP-2) binding sites. (J:84694)

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

In Structures Affected by this Mutation:

1 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 Ldlrap1 Mutation:	20 strains or lines available

Original:	J:84694 Jones C, et al., Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem. 2003 Aug 1;278(31):29024-30
All:	5 reference(s)