Phenotypes associated with this allele

• Allele Symbol: Mtnr1a^em1Stko
• Allele Name: endonuclease-mediated mutation 1, Stavroula Kousteni
• Allele ID: MGI:8245356
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mtnr1a^em1Stko/Mtnr1a^+	involves: C57BL/6 * CBA/J	MGI:8245357

Genotype
MGI:8245357

ht1

• Allelic Composition: Mtnr1a^em1Stko/Mtnr1a⁺
• Genetic Background: involves: C57BL/6 * CBA/J

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

skeleton

impaired osteoblast differentiation ( J:370727 )

• primary osteoblasts display a decrease in expression of all osteogenic markers during osteoblast differentiation

abnormal osteoblast physiology ( J:370727 )

• primary osteoblasts exhibit a mineralization defect

• osteoblasts treated with melatonin for 6 ours exhibit up-regulation of senescence markers

decreased osteoblast proliferation ( J:370727 )

• tibia shows a lack of proliferating osteoblasts at 3 months of age

increased osteoclast cell number ( J:370727 )

• mice show an increase in osteoclast surface per bone surface at 3 months of age

decreased bone volume ( J:370727 )

• 3-month-old mice exhibit a decrease in bone volume to total volume ratio

decreased osteoblast cell number ( J:370727 )

• mice show a decrease in osteoblast number per trabecular area at 3 months of age

• tibia shows reduced number of endosteal osteoblasts at 3 months of age

abnormal trabecular bone morphology ( J:370727 )

• mice show an increase in trabecular surface in tibia

decreased bone trabecula number ( J:370727 )

• mice show reduced trabecular number in tibia

decreased bone mass ( J:370727 )

• seen in 3-month-old mice

decreased bone mineralization ( J:370727 )

• primary osteoblasts exhibit a mineralization defect

• mice show decreased mineral apposition rate at 3 months of age

decreased bone ossification ( J:370727 )

• mice show reduced bone formation rate per bone surface at 3 months of age

• mice show decreased mineral apposition rate at 3 months of age

increased bone resorption ( J:370727 )

• mice show an increase in osteoclast surface per bone surface at 3 months of age

homeostasis/metabolism

increased urine calcium level ( J:370727 )

♂ • urine calcium concentration, normalized to creatine, is elevated in males

cellular

impaired osteoblast differentiation ( J:370727 )

• primary osteoblasts display a decrease in expression of all osteogenic markers during osteoblast differentiation

abnormal osteoblast physiology ( J:370727 )

• primary osteoblasts exhibit a mineralization defect

• osteoblasts treated with melatonin for 6 ours exhibit up-regulation of senescence markers

decreased osteoblast proliferation ( J:370727 )

• tibia shows a lack of proliferating osteoblasts at 3 months of age

hematopoietic system

increased osteoclast cell number ( J:370727 )

• mice show an increase in osteoclast surface per bone surface at 3 months of age

immune system

increased osteoclast cell number ( J:370727 )

• mice show an increase in osteoclast surface per bone surface at 3 months of age

renal/urinary system

increased urine calcium level ( J:370727 )

♂ • urine calcium concentration, normalized to creatine, is elevated in males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic juvenile osteoporosis		DOID:12559	OMIM:259750	J:370727