Phenotypes Associated with This Genotype

Genotype
MGI:6704951

• Allelic Composition: Mkrn3^em1Rhu/Mkrn3⁺
• Genetic Background: involves: C57BL/6

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

cellular

maternal imprinting ( J:305000 )

• in J:305000, all heterozygotes carry a paternally inherited mutant allele while the wild-type maternal copy is silenced due to imprinting

growth/size/body

decreased body weight ( J:305000 )

♂ • males with the paternally inherited mutant allele exhibit reduced body weights through P15 to P60

homeostasis/metabolism

increased circulating follicle stimulating hormone level ( J:305000 )

• serum levels of follicle stimulating hormone are 2-fold higher in mice with the paternally inherited mutant allele than in wild-type mice

increased circulating luteinizing hormone level ( J:305000 )

• serum levels of luteinizing hormone are 1.5-fold higher in mice with the paternally inherited mutant allele than in wild-type mice

reproductive system

early sexual maturation ( J:305000 )

• females with the paternally inherited mutant allele show earlier first time of estrus

• stage of elongating spermatids in males with the paternally inherited mutant allele comes earlier that in wild-type mice

early vaginal opening ( J:305000 )

♀ • the vaginal opening of females with the paternally inherited mutant allele occurs earlier than in wild-type mice

early balanopreputial separation ( J:305000 )

♂ • preputial separation time of males with the paternally inherited mutant allele is earlier than in wild-type mice

abnormal estrous cycle ( J:305000 )

♀ • females with the paternally inherited mutant allele show earlier first time of estrus

♀ • however, the first litter numbers in females with the paternally inherited mutant allele are the same as controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
central precocious puberty 2		DOID:0112309	OMIM:615346	J:305000