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

Symbol: Abcd1tm1Kds 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: Abcd1tm1Kds page

Lipid clefts are seen in adrenocortical cells of Abcd1tm1Kds/Y mice Show the 1 phenotype image(s) involving this allele.

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

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)

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

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

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

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)