Ldlrap1^tm1Her
Targeted Allele Detail

Summary

• Symbol: Ldlrap1^tm1Her
• 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: Ldlrap1^tm1Her page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)