Phenotypes Associated with This Genotype

Genotype
MGI:2174763

• Allelic Composition: Tcirg1^tm1Ypl/Tcirg1^tm1Ypl
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Snx10^{tm1a(EUCOMM)Raba}/Snx10^{tm1a(EUCOMM)Raba} and Tcirg1^tm1Ypl/Tcirg1^tm1Ypl mice show osteopetrorickets

mortality/aging

premature death ( J:58795 )

• die by 5 weeks of age; survival to 12 weeks when fed with milk of foster mothers

homeostasis/metabolism

decreased circulating calcium level ( J:224711 )

decreased vitamin D level ( J:224711 )

• lower 1,25-dihydroxyvitamin D levels

growth/size/body

failure of tooth eruption ( J:58795 )

absent teeth ( J:58795 )

decreased body weight ( J:58795 )

• 70% reduced weight at 23 days of age when compared to littermates

craniofacial

failure of tooth eruption ( J:58795 )

absent teeth ( J:58795 )

limbs/digits/tail

short limbs ( J:58795 )

skeleton

failure of tooth eruption ( J:58795 )

absent teeth ( J:58795 )

abnormal osteoclast physiology ( J:58795 )

• loss of extracellular acidification function

abnormal long bone hypertrophic chondrocyte zone ( J:58795 )

• observed in the tibia

abnormal long bone metaphysis morphology ( J:224711 )

• metaphyseal fraying and cupping

abnormal bone marrow cavity morphology ( J:58795 )

• narrow; 80% reduced space compared to controls

increased bone mineral density ( J:58795 )

decreased compact bone thickness ( J:58795 )

• thin and fragile

absent compact bone ( J:224711 )

• lack cortical bone

osteopetrosis ( J:58795 , J:224711 )

abnormal bone mineralization ( J:224711 )

• non-mineralized condyles and articulations

rickets ( J:224711 )

• mice exhibit metaphyseal fraying and cupping indicative of rickets superimposed on osteopetrosis or "osteopetrorickets"

immune system

abnormal osteoclast physiology ( J:58795 )

• loss of extracellular acidification function

hematopoietic system

abnormal osteoclast physiology ( J:58795 )

• loss of extracellular acidification function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 1		DOID:0110942	OMIM:259700	J:58795