Phenotypes Associated with This Genotype

Genotype
MGI:3712046

• Allelic Composition: Pygo2^tm1.2Xdai/Pygo2^tm1.2Xdai
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:121776 )

• all mice exhibit perinatal lethality

vision/eye

abnormal cornea morphology ( J:121776 )

• at E15.5, cornea does not form properly and only a single surface epithelium is found where the cornea should be

• at E15.5, hyaloid cavity is absent

abnormal lens development ( J:121776 )

• lenses are poorly differentiated

abnormal lens epithelium morphology ( J:121776 )

• cuboidal cells surround the lens that persist at E18.5

abnormal lens fiber morphology ( J:121776 )

• few lens fiber

aphakia ( J:121776 )

• at all stages examined mice have smaller or no lens

small lens ( J:121776 )

• at all stages examined mice have smaller or no lens

microphthalmia ( J:121776 )

• between E12.5 and term, 25% of mice have small eyes that are often distinct from brain abnormalities

delayed eyelid opening ( J:121776 )

• at E15.5, eyelids fail to form and close properly

abnormal retina morphology ( J:121776 )

• at E15.5

digestive/alimentary system

abnormal small intestine morphology ( J:121776 )

• at E18.5, greater than 90% of mice have an approximately 10% to 15% reduction in the length of the small intestine coinciding with decreased body size

• however, intervillous regions, cell proliferation in the intestine and histological morphology are normal

craniofacial

domed cranium ( J:121776 )

• between E12.5 and term, 14% of 63 mice exhibit exencephaly or a domed head

nervous system

increased brain size ( J:121776 )

• between E12.5 and term, 14% of 63 mice have enlarged brains

exencephaly ( J:121776 )

• between E12.5 and term, 14% of 63 mice exhibit exencephaly or a domed head

respiratory system

abnormal lung development ( J:121776 )

• at E18.5, lungs contain airways that terminate in large, smooth-walled cylindrical structures

• at E18.5, thinning of the interstitial tissue is defective

growth/size/body

decreased birth body size ( J:121776 )

• mice are born slightly runted with about a 10% reduction in length

decreased birth weight ( J:121776 )

• mice are born with a 15% to 20% reduction in weight

skeleton

domed cranium ( J:121776 )

• between E12.5 and term, 14% of 63 mice exhibit exencephaly or a domed head

integument

abnormal hair follicle development ( J:121776 )

• mild

• most mice have normal or lightly elongated follicles

• one newborn had arrested hair follicle development with a 30% decrease in hair follicle density