Abcd1^tm1Kan
Targeted Allele Detail

Summary

• Symbol: Abcd1^tm1Kan
• Name: ATP-binding cassette, sub-family D member 1; targeted mutation 1, Klaus-Armin Nave
• MGI ID: MGI:1861771
• Synonyms: ald -
• Gene: Abcd1 Location: ChrX:72760203-72782140 bp, + strand Genetic Position: ChrX, 37.39 cM, cytoband B
• Alliance: Abcd1^tm1Kan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:44812
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A genomic fragment consisting of a large part of exon 1 was deleted and replaced with a neomycin selection cassette. These sequences encode the translation initiation site and the first four transmembrane domains. A mutated transcript is produced from this allele, but lacks the authentic translation start site and contains stop codons in all three reading frames. (J:44812)

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 Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Abcd1^tm1Kan/Abcd1^tm1Kan	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
cn2  Disease Model	Abcd1^tm1Kan/Y Gt(ROSA)26Sor^tm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor^+ Cnp^tm1(cre)Kan/Cnp^+	involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6J
cn3	Abcd1^tm1Kan/Y Gt(ROSA)26Sor^tm2.1(CAG-ELOVL1)Geno/Gt(ROSA)26Sor^+ Tg(CMV-cre)1Cgn/0	involves: 129 * BALB/cJ * C57BL/6J * Swiss
ot4	Abcd1^tm1Kan/Y	involves: 129 * BALB/cJ * C57BL/6J * Swiss
ot5  Disease Model	Abcd1^tm1Kan/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Phenotypes:

Affected Systems	hm1	cn2	cn3	ot4	ot5
show or hide all annotated terms Sex:
homeostasis/metabolism	√	√	√	√	√
abnormal lipid homeostasis	√				√
increased fatty acids level		√	√	√
mortality/aging			√
lethality, incomplete penetrance			√
reproductive system	√				√
reduced fertility	√				√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	cn2	ot5
adrenoleukodystrophy IDs adrenoleukodystrophy       DOID:10588 DOID:13451 ICD10CM:E71.52 ICD9CM:341.1 MESH:D000326 NCI:C61252 OMIM:300100 UMLS_CUI:C0162309 Close	√	√	√

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Abcd1 Mutation: 14 strains or lines available

References

• Original: J:44812 Forss-Petter S, et al., Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res. 1997 Dec 1;50(5):829-43
• All: 14 reference(s)