Phenotypes Associated with This Genotype

Genotype
MGI:5443996

• Allelic Composition: Npr2^pwe/Npr2^pwe
• Genetic Background: involves: C3H/HeJ * C57BL/6 * NAW/WI

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

mortality/aging

decreased survivor rate ( J:188839 )

• Background Sensitivity: number of homozygotes produced from a heterozygote x heterozygote mating is less than the expected Mendelian ratio (12% vs. 25%)

growth/size/body

malocclusion ( J:188839 )

• malocculusion is frequent, but not completely penetrant

short snout ( J:188839 )

decreased body weight ( J:188839 )

• weight is 54% of controls

decreased body length ( J:188839 )

• crown-rump length is 77% of controls

disproportionate dwarf ( J:188839 )

• dwarfism is evident by 2 weeks of age

postnatal growth retardation ( J:188839 )

limbs/digits/tail

short humerus ( J:188839 )

short femur ( J:188839 )

craniofacial

malocclusion ( J:188839 )

• malocculusion is frequent, but not completely penetrant

domed cranium ( J:188839 )

short snout ( J:188839 )

reproductive system

abnormal oogenesis ( J:188839 )

• oocytes progress prematurely through meiosis

• all oocytes examined underwent premature germinal vesicle breakdown (GVBD)

• following ovulation, oocytes undergo fragmentation

delayed vaginal opening ( J:188839 )

• vaginal opening occurs at P33-P84

female infertility ( J:188839 )

reduced male fertility ( J:188839 )

• males are sub-fertile, however, there are no obvious abnormalities in penian bone or testes histology

skeleton

malocclusion ( J:188839 )

• malocculusion is frequent, but not completely penetrant

domed cranium ( J:188839 )

short humerus ( J:188839 )

short femur ( J:188839 )

abnormal long bone epiphyseal plate morphology ( J:188839 )

abnormal long bone epiphyseal plate proliferative zone ( J:188839 )

• reduction in height of proliferative zone of the tibial growth plate

abnormal long bone hypertrophic chondrocyte zone ( J:188839 )

• reduction in height of hypertrophic zone of the tibial growth plate

abnormal cervical atlas morphology ( J:188839 )

• C2 vertebrae have a notch on the dorsal side

abnormal endochondral bone ossification ( J:188839 )

• bones formed through endochrondral ossification are reduced in length, however there is no reduction in the width of the skull, femur or ribs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acromesomelic dysplasia, Maroteaux type		DOID:0080050	OMIM:602875	J:188839