| 11666 |
P48410 |
ABCD1_MOUSE |
ATP-binding cassette sub-family D member 1 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy protein) (ALDP) |
DISRUPTION PHENOTYPE |
Abcd1 hemizygous males are viable and apparently healthy and they show no detectable motor defect for at least 4-month-old. Inbreeding homozygous and hemizygous Abcd1-deficient mice show a reduction of fertility. Moreover, among several 6-month-old mice, there is at least one apparently infertile mutant of each sex. The infertile hemizygous male show additionally a severe testicular atrophy (PubMed:9418970). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to one year of age (PubMed:9126326). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to 6 months of age (PubMed:9256488). At 20 months of age, Abcd1 homozygous mice present an impairment of their locomotor coordination and exploratory abilities (PubMed:11875044, PubMed:15489218). Double Abcd1 and Abcd2 knockout mice exhibit severe impairment of their locomotor coordination and exploratory abilities already at 15 months of age (PubMed:15489218). {ECO:0000269|PubMed:11875044, ECO:0000269|PubMed:15489218, ECO:0000269|PubMed:9126326, ECO:0000269|PubMed:9256488, ECO:0000269|PubMed:9418970}. |