About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Abcd1tm1Kan
targeted mutation 1, Klaus-Armin Nave
MGI:1861771
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Abcd1tm1Kan/Abcd1tm1Kan involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2446583
cn2
 		Abcd1tm1Kan/Y
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor+
Cnptm1(cre)Kan/Cnp+ 		involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:6194786
cn3
 		Abcd1tm1Kan/Y
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor+
Tg(CMV-cre)1Cgn/0 		involves: 129 * BALB/cJ * C57BL/6J * Swiss MGI:6196586
ot4
 		Abcd1tm1Kan/Y involves: 129 * BALB/cJ * C57BL/6J * Swiss MGI:6196613
ot5
 		Abcd1tm1Kan/Y involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:2446586


Genotype
MGI:2446583
hm1
Allelic
Composition		 Abcd1tm1Kan/Abcd1tm1Kan
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd1tm1Kan mutation (1 available); any Abcd1 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal lipid homeostasis ( J:44812 )
• storage of very long-chain fatty acids in the adrenal cortex, CNS, kidney, testis and ovary

reproductive system
reduced fertility ( J:44812 )
• when inbreeding hemizygous and homozygous mutant mice

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
adrenoleukodystrophy DOID:10588 OMIM:300100
 J:44812




Genotype
MGI:6194786
cn2
Allelic
Composition		 Abcd1tm1Kan/Y
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor+
Cnptm1(cre)Kan/Cnp+
Genetic
Background		 involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd1tm1Kan mutation (1 available); any Abcd1 mutation (14 available)
Cnptm1(cre)Kan mutation (0 available); any Cnp mutation (27 available)
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased fatty acids level ( J:257393 )
• mice exhibit very-long-chain fatty acid accumulation in different lipid classes and acylcarnitines
• C26:0 levels are increased 15-fold in brain and 12-fold in spinal cord
• 1-hexacosanoyl-sn-glycero-3-phosophocholine (C26:0-lysoPC) levels are increased 13-fold in the brain, 24-fold in the spinal cord, and 17-fold in the blood
• C26:0-carnitine levels are increased 40-fold in brain, 33-fold in spinal cord, and 16-fold in the blood

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
adrenoleukodystrophy DOID:10588 OMIM:300100
 J:257393




Genotype
MGI:6196586
cn3
Allelic
Composition		 Abcd1tm1Kan/Y
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor+
Tg(CMV-cre)1Cgn/0
Genetic
Background		 involves: 129 * BALB/cJ * C57BL/6J * Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd1tm1Kan mutation (1 available); any Abcd1 mutation (14 available)
Gt(ROSA)26Sortm2.1(CAG-ELOVL1)Geno mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(CMV-cre)1Cgn mutation (6 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased fatty acids level ( J:257393 )
• mice exhibit very-long-chain fatty acid accumulation in different lipid classes and acylcarnitines
• total C26:0 levels are increased 20-fold in brain, 44-fold in adrenals, 90-fold in testes, 14-fold in lung, 14-fold in liver and 11-fold in kidney

mortality/aging
lethality, incomplete penetrance ( J:257393 )
• fewer than the expected number of males are obtained (6% vs the expected 25%), however time is not specified




Genotype
MGI:6196613
ot4
Allelic
Composition		 Abcd1tm1Kan/Y
Genetic
Background		 involves: 129 * BALB/cJ * C57BL/6J * Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd1tm1Kan mutation (1 available); any Abcd1 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased fatty acids level ( J:257393 )
• mice exhibit very-long-chain fatty acid accumulation in different lipid classes and acylcarnitines
• total C26:0 levels are increased 8-fold in brain, 4-fold in adrenals, 1.5-fold in testes, 4.5-fold in lung, 2.5-fold in liver, and 3.5-fold in kidney
• 1-hexacosanoyl-sn-glycero-3-phosophocholine (C26:0-lysoPC) levels are increased 4-fold in the brain, 6-fold in the spinal cord, and 6-fold in the blood
• C26:0-carnitine levels are increased 10-fold in brain, 9-fold in spinal cord, and 6-fold in the blood
• however, total plasma C26:0 is not increased




Genotype
MGI:2446586
ot5
Allelic
Composition		 Abcd1tm1Kan/Y
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcd1tm1Kan mutation (1 available); any Abcd1 mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal lipid homeostasis ( J:44812 )
• storage of very long-chain fatty acids in the adrenal cortex, CNS, kidney, testis and ovary

reproductive system
reduced fertility ( J:44812 )
• when inbreeding hemizygous and homozygous mutant mice

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
adrenoleukodystrophy DOID:10588 OMIM:300100
 J:44812




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory