Abcd1^tm1Ymd
Targeted Allele Detail

Summary

• Symbol: Abcd1^tm1Ymd
• Name: ATP-binding cassette, sub-family D member 1; targeted mutation 1, Takeshi Yamada
• MGI ID: MGI:2429945
• Gene: Abcd1 Location: ChrX:72760203-72782140 bp, + strand Genetic Position: ChrX, 37.39 cM, cytoband B
• Alliance: Abcd1^tm1Ymd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:40230
• Parent Cell Line: CCE/EK.CCE (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 3' portion of exon 1 was replaced with a neomycin selection cassette. The deleted region encoded 284 amino acids. No protein was detected by Western blot analysis of homozygous mutant mice. (J:40230)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Abcd1 Mutation: 14 strains or lines available

References

• Original: J:40230 Kobayashi T, et al., Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun. 1997 Mar 27;232(3):631-6
• All: 4 reference(s)