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Abcd1tm1Kds
Targeted Allele Detail
Summary
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.

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
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
hm1  Disease Model
either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)
 
hm2  Disease Model
involves: 129/Sv * 129S4/SvJae * C57BL/6J
 
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J
 
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J
 
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J
 
ot6  Disease Model
either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)
 
ot7  Disease Model
involves: 129S4/SvJae * C57BL/6J
 
Phenotypes:
Affected Systems
show or hide all annotated terms Sex:
             
behavior/neurological
abnormal involuntary movement
tremors
abnormal motor coordination/balance
impaired balance
impaired coordination
abnormal posture
abnormal locomotor behavior
ataxia
abnormal locomotor activation
decreased vertical activity
endocrine/exocrine glands
abnormal adrenal cortex morphology
abnormal adrenal gland zona fasciculata morphology
abnormal adrenal gland zona reticularis morphology
hematopoietic system
abnormal microglial cell morphology
homeostasis/metabolism
abnormal lipid homeostasis
increased fatty acids level
increased saturated fatty acids level
immune system
abnormal microglial cell morphology
increased inflammatory response
nervous system
abnormal CNS glial cell morphology
abnormal microglial cell morphology
abnormal astrocyte morphology
astrocytosis
abnormal Schwann cell morphology
abnormal spinal cord morphology
axon degeneration
abnormal nervous system physiology
abnormal myelination
abnormal nervous system electrophysiology
abnormal nerve conduction
normal phenotype
no abnormal phenotype detected
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm1
hm2
ot6
ot7
IDs
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory