Phenotypes Associated with This Genotype

Genotype
MGI:3694692

• Allelic Composition: Pax2^tm1Pgr/Pax2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

renal/urinary system

kidney cortex hypoplasia ( J:30343 )

• at E17.0, heterozygotes frequently display a thinner cortical region

abnormal kidney calyx morphology ( J:30343 )

• heterozygous kidneys are frequently hypoplastic due to calyx reduction

small kidney ( J:30343 )

• at E17.5, heterozygotes display a reduced kidney size, ranging form 1/10 of normal size to wild-type size

renal hypoplasia ( J:30343 )

• heterozygotes frequently develop renal hypoplasia, mainly due to reduced calyces and upper part of the ureters, suggesting defects in ureter branching and/or cell proliferation

decreased nephron number ( J:30343 )

• heterozygotes frequently display a reduced number of developing nephrons

nervous system

exencephaly ( J:36834 )

• Background Sensitivity: in heterozygotes, incidence of exencephaly is 11 of 59 cases in a 129/Sv x NMRI mixed background, 1 of 29 in a 129/Sv x C57BL/6 mixed background, 2 of 11 in a 129/Sv x C3H mixed background, and none out of 14 in a 129/Sv inbred background

• heterozygous embryos exhibit exencephaly with a low penetrance and in a background-dependent fashion

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

vision/eye

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:36834 )

N • exencephalic heterozygotes do NOT display overt abnormalities in inner ear development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:36834