Phenotypes associated with this allele

• Allele Symbol: Nsd2^tm1Ykan
• Allele Name: targeted mutation 1, Yasufumi Kaneda
• Allele ID: MGI:3851507
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nsd2^tm1Ykan/Nsd2^tm1Ykan	involves: 129S2/SvPas * C57BL/6	MGI:3851517
ht2	Nsd2^tm1Ykan/Nsd2^+	involves: 129S2/SvPas * C57BL/6	MGI:3851518
cx3	Nkx2-5^tm1(cre)Rjs/Nkx2-5^+ Nsd2^tm1Ykan/Nsd2^+	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6	MGI:3851519

Genotype
MGI:3851517

hm1

• 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

Genotype
MGI:3851518

ht2

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

growth/size/body

malocclusion ( J:150360 )

• some mice have malocclusions

postnatal growth retardation ( J:150360 )

• some mice exhibit severe growth retardation

cardiovascular system

abnormal interatrial septum morphology ( J:150360 )

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

craniofacial

malocclusion ( J:150360 )

• some mice have malocclusions

skeleton

malocclusion ( J:150360 )

• some mice have malocclusions

abnormal sternum ossification ( J:150360 )

• mice have a delay in development of sternum ossifications

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

Genotype
MGI:3851519

cx3

• Allelic Composition: Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺; Nsd2^tm1Ykan/Nsd2⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

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 )

• one-third of E18.5 embryos have atrial septum defects

perimembraneous ventricular septal defect ( J:150360 )

• one-third of E18.5 embryos have membranous ventricular septum defects