Phenotypes associated with this allele

• Allele Symbol: Ephx2^tm1Gonz
• Allele Name: targeted mutation 1, Frank Gonzalez
• Allele ID: MGI:2149064
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ephx2^tm1Gonz/Ephx2^tm1Gonz	B6.129X1-Ephx2^tm1Gonz	MGI:5609317
hm2	Ephx2^tm1Gonz/Ephx2^tm1Gonz	involves: 129X1/SvJ * C57BL/6	MGI:3511583

Genotype
MGI:5609317

hm1

• Allelic Composition: Ephx2^tm1Gonz/Ephx2^tm1Gonz
• Genetic Background: B6.129X1-Ephx2^tm1Gonz

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

cardiovascular system

abnormal retina vasculature morphology ( J:208344 )

• significant delay in the radial extension of the vascular plexus from the optic nerve to the periphery at P2 and P5

• at P5 there is a significant reduction in endothelial cell proliferation as well as fewer tip cells and filopedia at the angiogenic front of the vascular plexus that is extending from the optic nerve to the periphery

• formation of the secondary retinal capillary plexus is attenuated at P9

abnormal vascular branching morphogenesis ( J:208344 )

homeostasis/metabolism

abnormal lipid level ( J:208344 )

• in retinal lipid profiles levels of 11,12-epoxyeicosatrienoic acids (EET), 14,15-EET and 19,20-epoxydocosapentaenoic acid are increased, and levels of the corresponding diols of 11,12- and 14,15-EETs are slightly decreased

vision/eye

abnormal retina vasculature morphology ( J:208344 )

• significant delay in the radial extension of the vascular plexus from the optic nerve to the periphery at P2 and P5

• at P5 there is a significant reduction in endothelial cell proliferation as well as fewer tip cells and filopedia at the angiogenic front of the vascular plexus that is extending from the optic nerve to the periphery

• formation of the secondary retinal capillary plexus is attenuated at P9

Genotype
MGI:3511583

hm2

• Allelic Composition: Ephx2^tm1Gonz/Ephx2^tm1Gonz
• Genetic Background: involves: 129X1/SvJ * C57BL/6

cardiovascular system

decreased systemic arterial systolic blood pressure ( J:71007 )

• male homozygotes exhibit reduced systolic blood pressure both in the absence and presence of dietary salt loading compared with sex matched, wild-type mice

• in contrast, female homozygotes show minimal differences in systolic blood pressure relative to wild-type mice

• both mutant and wild-type female mice exhibit significantly lower systolic blood pressure than male wild-type mice

homeostasis/metabolism

abnormal metabolism ( J:71007 )

• homozygotes of both sexes exhibit impaired hepatic and renal arachidonic acid metabolism

• homozygotes display a 58-fold greater ratio of epoxyeicosatrienoic/dihydroxyeicosatrienoic acid (EETs/DHETs) specific activity in hepatic S-9 fractions relative to wild-type mice

• also, homozygotes show a significant reduction in DHETs formation by kidney S-9 fractions, regardless of sex and diet