Phenotypes associated with this allele

• Allele Symbol: Epn1^tm1Ocr
• Allele Name: targeted mutation 1, Ottavio Cremona
• Allele ID: MGI:4356015
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epn1^tm1Ocr/Epn1^tm1Ocr	B6.129X1-Epn1^tm1Ocr	MGI:4356017
cx2	Epn1^tm1Ocr/Epn1^tm1Ocr Epn2^tm1Ocr/Epn2^tm1Ocr	B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr	MGI:4356019
cx3	Epn1^tm1Ocr/Epn1^+ Epn2^tm1Ocr/Epn2^tm1Ocr	B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr	MGI:4356020
cx4	Epn1^tm1Ocr/Epn1^tm1Ocr Epn2^tm1Ocr/Epn2^+	B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr	MGI:4356021

Genotype
MGI:4356017

hm1

• Allelic Composition: Epn1^tm1Ocr/Epn1^tm1Ocr
• Genetic Background: B6.129X1-Epn1^tm1Ocr

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

normal phenotype

no abnormal phenotype detected ( J:151951 )

• viable and fertile with no gross abnormalities

Genotype
MGI:4356019

cx2

• Allelic Composition: Epn1^tm1Ocr/Epn1^tm1Ocr; Epn2^tm1Ocr/Epn2^tm1Ocr
• Genetic Background: B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr

Major developmental defects in Epn1^tm1Ocr/Epn1^tm1Ocr Epn2^tm1Ocr/Epn2^tm1Ocr embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:151951 )

• die between E9.5 and E11.5

embryo

abnormal embryo turning ( J:151951 )

• fail to undergo axial rotation in the sagital plane

embryonic growth arrest ( J:151951 )

• arrest by E9.5

decreased embryo size ( J:151951 )

• at E9.0

abnormal neural tube morphology ( J:151951 )

• at E9.0 picnotic cells are seen in the neural tube

open neural tube ( J:151951 )

• at E9.0

abnormal somite development ( J:151951 )

abnormal somite shape ( J:151951 )

• somites that do form are irregular in size and shape

abnormal somite size ( J:151951 )

• somites that do form are irregular in size and shape

incomplete somite formation ( J:151951 )

• severely impaired somitogenesis resulting in a reduction in the number of somites formed by E9.5

absent placental labyrinth ( J:151951 )

• at E9.0

abnormal vitelline vascular remodeling ( J:151951 )

• lack large vitelline vessels and the sinusoids are larger and dilated at E9.0 indicating failure to remodel the vascular plexus

nervous system

abnormal brain vasculature morphology ( J:151951 )

• at E9.0, vessels in the telencephalic region fail to form finely branched trees, instead a coarse network of uniformly sized vessels is present

abnormal neural tube morphology ( J:151951 )

• at E9.0 picnotic cells are seen in the neural tube

open neural tube ( J:151951 )

• at E9.0

cardiovascular system

abnormal blood vessel morphology ( J:151951 )

• at E9.0 in the intersomitic region, vessels are only present in areas where somites develop and these vessels are disorganized compared to controls

abnormal brain vasculature morphology ( J:151951 )

• at E9.0, vessels in the telencephalic region fail to form finely branched trees, instead a coarse network of uniformly sized vessels is present

abnormal developmental vascular remodeling ( J:151951 )

• defects in angiogenic vascular remodeling

thin ventricular wall ( J:151951 )

• atrophic ventricular wall seen at E9.5

cellular

cellular phenotype ( J:151951 )

N • no defects in proliferation or clathrin mediated endocytosis are detected in MEFs in contrast results from previous experiments using Epn1 knockdown cells

growth/size/body

decreased embryo size ( J:151951 )

• at E9.0

Genotype
MGI:4356020

cx3

• Allelic Composition: Epn1^tm1Ocr/Epn1⁺; Epn2^tm1Ocr/Epn2^tm1Ocr
• Genetic Background: B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr

mortality/aging

decreased survivor rate ( J:151951 )

• not as severe as in mice heterozygous for the Epn2 mutation and homozygous for the Epn1 mutation

premature death ( J:151951 )

• not as severe as in mice heterozygous for the Epn2 mutation and homozygous for the Epn1 mutation

growth/size/body

slow postnatal weight gain ( J:151951 )

• not as severe as in mice heterozygous for the Epn2 mutation and homozygous for the Epn1 mutation

Genotype
MGI:4356021

cx4

• Allelic Composition: Epn1^tm1Ocr/Epn1^tm1Ocr; Epn2^tm1Ocr/Epn2⁺
• Genetic Background: B6.129X1-Epn1^tm1Ocr Epn2^tm1Ocr

mortality/aging

decreased survivor rate ( J:151951 )

premature death ( J:151951 )

• percentage of mice surviving to 10 months of age is reduced

growth/size/body

slow postnatal weight gain ( J:151951 )

reproductive system

reduced fertility ( J:151951 )