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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




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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory