Phenotypes Associated with This Genotype

Genotype
MGI:3713468

• Allelic Composition: Pygo1^tm1.1Ssp/Pygo1^tm1.1Ssp; Pygo2^tm1.2Ssp/Pygo2^tm1.2Ssp
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * Black Swiss

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

Small size, eye defects and exencephaly in Pygo1^tm1.1Ssp/Pygo1^tm1.1Ssp Pygo2^tm1.2Ssp/Pygo2^tm1.2Ssp mice at E18.5

mortality/aging

neonatal lethality, incomplete penetrance ( J:121918 )

• mice have phenotypes similar to Pygo2^tm1.1Ssp single homozygotes and no synergy is observed in defect penetrance or severity

renal/urinary system

abnormal ureter development ( J:121918 )

• ureteric bud numbers are decreased 25% in mice with kidney defects

vision/eye

aphakia ( J:121918 )

• absent or rudimentary lens

abnormal retina morphology ( J:121918 )

• retinas are absent or rudimentary and the pigmented retina is folded

retina fold ( J:121918 )

• the pigmented retina is folded

growth/size/body

decreased fetal size ( J:121918 )

fetal growth retardation ( J:121918 )

• mice have phenotypes similar to Pygo2^tm1.1Ssp single homozygotes and no synergy is observed in defect penetrance or severity

nervous system

exencephaly ( J:121918 )

• seen in a small percentage of fetuses