Phenotypes Associated with This Genotype

Genotype
MGI:3664551

• Allelic Composition: Ncoa1^tm1.1Hkaw/Ncoa1^tm1.1Hkaw
• Genetic Background: B6.Cg-Ncoa1^tm1.1Hkaw

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

growth/size/body

obese ( J:111490 )

• mice show slight increase in body weight with increasing age vs wild-type as result of obesity

homeostasis/metabolism

decreased circulating testosterone level ( J:111490 )

• serum levels are elevated in male mutants

increased circulating estradiol level ( J:111490 )

• serum levels are elevated in female mutants

increased circulating leptin level ( J:111490 )

• serum levels are somewhat upregulated in mutants but increase is not statistically significant

increased circulating alkaline phosphatase level ( J:111490 )

• serum levels of this marker of bone formation are increased in mutants compared to wild-type littermates

abnormal urine homeostasis ( J:111490 )

• urinary deoxypyridinoline, a marker for bone resorption, is higher in mutants vs wild-type littermates

endocrine/exocrine glands

testis hypoplasia ( J:111490 )

♂ • slight testicular hypoplasia of testis (~20%) is observed in male knockouts at 24 weeks of age

renal/urinary system

abnormal urine homeostasis ( J:111490 )

• urinary deoxypyridinoline, a marker for bone resorption, is higher in mutants vs wild-type littermates

reproductive system

testis hypoplasia ( J:111490 )

♂ • slight testicular hypoplasia of testis (~20%) is observed in male knockouts at 24 weeks of age

skeleton

decreased bone mineral content ( J:111490 )

• in femora of mutants, there is ~35-40% lower bone mineral content (BMC) of trabecular bones; cortical bones are not affected

decreased bone mineral density ( J:111490 )

• at 24 weeks of age, an ~10% reduction in bone mineral density of long bones in male and female Ncoa1^tm1.1Haw homozygotes compared to littermates

• mice show a state of high-turnover osteopenia (higher increase in parameters of bone resorption vs parameters of bone formation)

decreased bone mineral density of femur ( J:111490 )

• in femora of mutants, there is ~35-40% lower bone mineral density (BMD) of trabecular bones; cortical bones are not affected

decreased bone volume ( J:111490 )

• at 24 weeks, bone volume (bone volume/tissue volume) is decreased by 30-40% compared to wild-type

osteoporosis ( J:111490 )

• indicated by high turn-over osteopenia at 24 weeks

abnormal bone remodeling ( J:111490 )

• parameters for bone formation and bone resorption are significantly higher in mutants; bone formation parameters are increased ~30-60% in mutants

increased bone resorption ( J:111490 )

• bone resorption parameters are increased by ~60-80% in mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obesity		DOID:9970	OMIM:601665	J:111490