Phenotypes associated with this allele

• Allele Symbol: Pls3^em1Bult
• Allele Name: endonuclease-mediated mutation 1, Carol Bult
• Allele ID: MGI:6302819
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pls3^em1Bult/Pls3^em1Bult	C57BL/6J-Pls3^em1Bult/BultJ	MGI:7545087
ot2	Pls3^em1Bult/Y	C57BL/6J-Pls3^em1Bult/BultJ	MGI:7616737

Genotype
MGI:7545087

hm1

• Allelic Composition: Pls3^em1Bult/Pls3^em1Bult
• Genetic Background: C57BL/6J-Pls3^em1Bult/BultJ

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

mortality/aging

preweaning lethality ( J:341714 )

♀ • Most homozygous females and hemizygous males die by 2 days of age

neonatal lethality, incomplete penetrance ( J:341714 )

♀

postnatal lethality, incomplete penetrance ( J:341714 )

♀

muscle

abnormal abdominal muscle morphology ( J:341714 )

♀ • all homozygous females and hemizygous males have thin muscles of the abdominal wall

abnormal diaphragm morphology ( J:341714 )

♀

abnormal diaphragm development ( J:341714 )

♀

diaphragmatic hernia ( J:341714 )

♀

thin diaphragm muscle ( J:341714 )

♀

skeleton

increased bone mineral density ( J:341714 )

♀ • Despite normal body weight and tissue mass, from homozygous females and hemizygous males have increased bone mineral density at 3 months of age

growth/size/body

abnormal body wall morphology ( J:341714 )

♀

abnormal abdominal wall morphology ( J:341714 )

♀

herniated abdominal wall ( J:341714 )

♀ • a subset of homozygous females and hemizygous males have midline protrusion of the intestine

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:341714 )

♀N • wound healing assays using MEFs from homozygous females and hemizygous males found no defects in cell migration into the wounded section of the dish

respiratory system

respiratory system phenotype ( J:341714 )

♀N • no defects were found in the lungs of homozygous females and hemizygous males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:341714

Genotype
MGI:7616737

ot2

• Allelic Composition: Pls3^em1Bult/Y
• Genetic Background: C57BL/6J-Pls3^em1Bult/BultJ

growth/size/body

abnormal abdominal wall morphology ( J:341714 )

♂

herniated abdominal wall ( J:341714 )

♂ • a subset of homozygous females and hemizygous males have midline protrusion of the intestine

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:341714 )

♂ • wound healing assays using MEFs from homozygous females and hemizygous males found no defects in cell migration into the wounded section of the dish

mortality/aging

preweaning lethality ( J:341714 )

♂ • Most homozygous females and hemizygous males die by 2 days of age

neonatal lethality, incomplete penetrance ( J:341714 )

♂

postnatal lethality, incomplete penetrance ( J:341714 )

♂

muscle

abnormal abdominal muscle morphology ( J:341714 )

♂ • all homozygous females and hemizygous males have thin muscles of the abdominal wall

abnormal diaphragm morphology ( J:341714 )

♂

diaphragmatic hernia ( J:341714 )

♂

thin diaphragm muscle ( J:341714 )

♂

respiratory system

respiratory system phenotype ( J:341714 )

♂ • no defects were found in the lungs of homozygous females and hemizygous males

skeleton

increased bone mineral density ( J:341714 )

♂ • Despite normal body weight and tissue mass, from homozygous females and hemizygous males have increased bone mineral density at 3 months of age. This persists in hemizygous males at 15 months of age.

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:341714