Phenotypes Associated with This Genotype

Genotype
MGI:3851594

• Allelic Composition: Acsbg1^tm1Mld/Acsbg1^tm1Mld
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

reproductive system phenotype ( J:150391 )

N • both males and females are fertile

abnormal Leydig cell morphology ( J:150391 )

♂ • at 9 months of age, significant nuclear inclusions are seen in Leydig cells while such inclusions aren't seen in wild-type mice until 15 months of age

♂ • inclusions are surrounded by a single membrane and contain degenerated cytoplasmic components

abnormal testis physiology ( J:150391 )

♂ • enhanced human chorionic gonadotropin induced testosterone production in vivo and impaired gonadotropin induced desensitization in vitro

homeostasis/metabolism

increased circulating testosterone level ( J:150391 )

• levels are increased compared to similarly treated controls after a single dose of human chorionic gonadotropin

• however, basal levels are similar to wild-type controls

decreased fatty acids level ( J:150391 )

• decrease in palmitic, oleic and linoleic acid in the adrenal gland

increased fatty acids level ( J:150391 )

• minor but significant increase in some long chain fatty acids in the testis, ovary and brain

• some very long chain fatty acids are increased in the brain and testis

endocrine/exocrine glands

abnormal Leydig cell morphology ( J:150391 )

♂ • at 9 months of age, significant nuclear inclusions are seen in Leydig cells while such inclusions aren't seen in wild-type mice until 15 months of age

♂ • inclusions are surrounded by a single membrane and contain degenerated cytoplasmic components

abnormal testis physiology ( J:150391 )

♂ • enhanced human chorionic gonadotropin induced testosterone production in vivo and impaired gonadotropin induced desensitization in vitro

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	adrenoleukodystrophy	DOID:10588	OMIM:300100	J:150391