Abcd1^tm1Kan
Targeted Allele Detail

Summary

• Symbol: Abcd1^tm1Kan
• Name: ATP-binding cassette, sub-family D member 1; targeted mutation 1, Klaus-Armin Nave
• MGI ID: MGI:1861771
• Synonyms: ald -
• Gene: Abcd1 Location: ChrX:72760203-72782140 bp, + strand Genetic Position: ChrX, 37.39 cM, cytoband B
• Alliance: Abcd1^tm1Kan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:44812
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A genomic fragment consisting of a large part of exon 1 was deleted and replaced with a neomycin selection cassette. These sequences encode the translation initiation site and the first four transmembrane domains. A mutated transcript is produced from this allele, but lacks the authentic translation start site and contains stop codons in all three reading frames. (J:44812)

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
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 Abcd1 Mutation: 14 strains or lines available

References

• Original: J:44812 Forss-Petter S, et al., Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res. 1997 Dec 1;50(5):829-43
• All: 13 reference(s)