Phenotypes Associated with This Genotype

Genotype
MGI:3522090

• Allelic Composition: Nppc^tm1Yog/Nppc^tm1Yog
• Genetic Background: either: 129X1/SvJ or (involves: 129 * C57BL/6J)

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

Dwarfism in Nppc^tm1Yog/Nppc^tm1Yog mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:75620 )

• about half of all homozygotes die before weaning and only about 30% survive to 100 days

craniofacial

decreased cranium height ( J:75620 )

• skull length reduced significantly but not shape or interparietal width

growth/size/body

decreased body weight ( J:75620 )

• body weight about 90% normal at birth

decreased body length ( J:75620 )

• naso-anal body length about 90% normal at birth

disproportionate dwarf ( J:75620 )

postnatal growth retardation ( J:75620 )

• dwarfism becomes more obvious with age

• lengths 60-70% normal at 4-10 weeks of age

• weights about 70% of normal at 20 weeks of age

skeleton

decreased cranium height ( J:75620 )

• skull length reduced significantly but not shape or interparietal width

abnormal vertebral epiphyseal plate morphology ( J:75620 )

• growth plates of vertebrae narrowed

abnormal cartilage morphology ( J:75620 )

abnormal long bone epiphyseal plate proliferative zone ( J:75620 )

• height of proliferative zone is lower

decreased width of hypertrophic chondrocyte zone ( J:75620 )

decreased long bone epiphyseal plate size ( J:75620 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:75620