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Abcd1tm1Kds
Targeted Allele Detail
Nomenclature
Symbol: Abcd1tm1Kds
Name: ATP-binding cassette, sub-family D (ALD), member 1; targeted mutation 1, Kirby D Smith
MGI ID: MGI:2155926
Synonyms: abcd1 KO, X-ALD-
Gene: Abcd1  Location: ChrX:73716597-73738534 bp, + strand  Genetic Position: ChrX, 37.39 cM, cytoband B
Lipid clefts are seen in adrenocortical cells of Abcd1tm1Kds/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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  11 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:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory