Phenotypes Associated with This Genotype

Genotype
MGI:3707539

• Allelic Composition: Nppc^lbab/Nppc^lbab
• Genetic Background: B6.PL-Nppc^lbab/GrsrJ

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

Nppc^lbab/Nppc^lbab(left) with littermate Nppc^lbab/⁺ (right)

mortality/aging

postnatal lethality, complete penetrance ( J:122924 )

• die before 7 days of age

skeleton

abnormal long bone epiphyseal plate proliferative zone ( J:321139 )

• thickness of the proliferative chondrocyte layer is decreased at 2 weeks of age

• the number of PCNA+ cells is severely decreased in the proliferative chondrocyte layer of the growth plate

decreased width of hypertrophic chondrocyte zone ( J:321139 )

• the hypertrophic chondrocyte layer is thinner at 3 days of age and 2 weeks of age

decreased long bone epiphyseal plate size ( J:321139 )

• the tibial growth plate, especially the hypertrophic chondrocyte layer, is thinner at 3 days of age and is thinner at 10 weeks of age

decreased bone volume ( J:321139 )

decreased trabecular bone thickness ( J:321139 )

• reduction in trabecular thickness of the humerus at 10 weeks of age

abnormal endochondral bone ossification ( J:321139 )

• mice show impaired growth of bones formed through endochondral ossification; longitudinal growth of the vertebrae, tail, and extremities is affected at 2 weeks of age

• in organ culture, fetal tibial explants are shorter than controls

growth/size/body

decreased body size ( J:321139 )

• severe dwarfism

decreased body weight ( J:122924 , J:321139 )

• body weight is 44.1% of wild-type (J:122924)

• body weight is 68% of wild-type at birth and decreases to 46% by 3 weeks of age, but increases after 5 weeks of age, becoming about 60% after 7 weeks (J:321139)

decreased body length ( J:122924 , J:321139 )

• body length is 61.6% of wild-type (J:122924)

• pups are slightly shorter at birth (J:321139)

• the nasoanal and nose-tail lengths are 88 and 83% of those of wild-type, respectively, at birth and decrease to 65% and 55% by the age of 3 weeks, and stabilize at 66-72% and 57-62%, respectively, after 5 weeks of age (J:321139)

disproportionate dwarf ( J:122924 )

limbs/digits/tail

short limbs ( J:122924 )

reproductive system

abnormal female meiosis ( J:164870 )

♀ • while oocytes in late antral follicles are usually maintained at the germinal vesicle stage with arrested meiosis, half of those in homozygotes have already resumed meiosis

cellular

abnormal female meiosis ( J:164870 )

♀ • while oocytes in late antral follicles are usually maintained at the germinal vesicle stage with arrested meiosis, half of those in homozygotes have already resumed meiosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:122924
osteochondrodysplasia		DOID:2256		J:321139