Phenotypes Associated with This Genotype

Genotype
MGI:3851517

• Allelic Composition: Nsd2^tm1Ykan/Nsd2^tm1Ykan
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:150360 )

• no mice live past 10 days of age

neonatal lethality, incomplete penetrance ( J:150360 )

• some mice are stillborn

cardiovascular system

abnormal interatrial septum morphology ( J:150360 )

• hypoplasia of the septum secundum was observed more frequently in E18.5 embryos than in controls

atrial septal defect ( J:150360 )

• all E18.5 embryos have atrial septum defects

perimembraneous ventricular septal defect ( J:150360 )

• half of E18.5 embryos have membranous ventricular septum defects

craniofacial

cleft palate ( J:150360 )

• cleft palate is observed in E18.5 embryos

digestive/alimentary system

cleft palate ( J:150360 )

• cleft palate is observed in E18.5 embryos

growth/size/body

cleft palate ( J:150360 )

• cleft palate is observed in E18.5 embryos

postnatal growth retardation ( J:150360 )

• after birth, mice exhibit growth retardation before dying

decreased fetal size ( J:150360 )

• E18.5 embryos are significantly smaller than controls

skeleton

failure of sternum ossification ( J:150360 )

• E18.5 embryos do not have ossification centers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolf-Hirschhorn syndrome		DOID:0050460	OMIM:194190	J:150360