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

cellular

abnormal oogenesis ( J:188839 )

• oocytes progress prematurely through meiosis

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

• following ovulation, oocytes undergo fragmentation

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