Abcd1^tm1Kds
Targeted Allele Detail

Summary

• Symbol: Abcd1^tm1Kds
• Name: ATP-binding cassette, sub-family D member 1; targeted mutation 1, Kirby D Smith
• MGI ID: MGI:2155926
• Synonyms: abcd1 KO, X-ALD^-
• Gene: Abcd1 Location: ChrX:72760203-72782140 bp, + strand Genetic Position: ChrX, 37.39 cM, cytoband B
• Alliance: Abcd1^tm1Kds page

Lipid clefts are seen in adrenocortical cells of Abcd1^tm1Kds/Y mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:42479
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin selection cassette was inserted into exon 2 at codon 322. This mutation is predicted to cause a frameshift and premature truncation of the protein. (J:42479)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• 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 Abcd1 Mutation: 14 strains or lines available

References

• Original: J:42479 Lu JF, et al., A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9366-71
• All: 15 reference(s)