Phenotypes associated with this allele

• Allele Symbol: Pygo2^tm1.2Xdai
• Allele Name: targeted mutation 1.2, Xing Dai
• Allele ID: MGI:3711739
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pygo2^tm1.2Xdai/Pygo2^tm1.2Xdai	involves: 129P2/OlaHsd	MGI:4889121
hm2	Pygo2^tm1.2Xdai/Pygo2^tm1.2Xdai	involves: 129P2/OlaHsd * C57BL/6	MGI:3712046
cn3	Pygo2^tm1.1Xdai/Pygo2^tm1.2Xdai Tg(KRT14-cre)#Smr/0	involves: 129P2/OlaHsd * C57BL/6J * SJL/J	MGI:4889120

Genotype
MGI:4889121

hm1

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

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

endocrine/exocrine glands

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary buds from embryos exhibit reduced proliferation with impaired cell cycle progression compared with cells from wild-type mice

integument

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary buds from embryos exhibit reduced proliferation with impaired cell cycle progression compared with cells from wild-type mice

cellular

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary buds from embryos exhibit reduced proliferation with impaired cell cycle progression compared with cells from wild-type mice

Genotype
MGI:3712046

hm2

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

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

Genotype
MGI:4889120

cn3

• Allelic Composition: Pygo2^tm1.1Xdai/Pygo2^tm1.2Xdai; Tg(KRT14-cre)#Smr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL/J

endocrine/exocrine glands

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary progenitor cells exhibit impaired expansion compared to in wild-type mice

♀ • however, mammary progenitor cell differentiation is normal

abnormal mammary gland development ( J:163218 )

♀ • at 3 weeks, mice lack terminal end buds compared with wild-type mice

♀ • at 6 weeks, ductal elongation is delayed compared to in wild-type mice

♀ • at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice

♀ • however, mammary progenitor cell differentiation is normal

abnormal branching of the mammary ductal tree ( J:163218 )

♀ • at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice

abnormal mammary gland embryonic development ( J:163218 )

♀ • in some newborn mice exhibit impaired mammary gland development compared with wild-type mice

abnormal mammary gland growth during lactation ( J:163218 )

♀ • during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice

abnormal mammary gland growth during pregnancy ( J:163218 )

♀ • during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice

lactation failure ( J:163218 )

♀

integument

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary progenitor cells exhibit impaired expansion compared to in wild-type mice

♀ • however, mammary progenitor cell differentiation is normal

abnormal mammary gland development ( J:163218 )

♀ • at 3 weeks, mice lack terminal end buds compared with wild-type mice

♀ • at 6 weeks, ductal elongation is delayed compared to in wild-type mice

♀ • at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice

♀ • however, mammary progenitor cell differentiation is normal

abnormal branching of the mammary ductal tree ( J:163218 )

♀ • at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice

abnormal mammary gland embryonic development ( J:163218 )

♀ • in some newborn mice exhibit impaired mammary gland development compared with wild-type mice

abnormal mammary gland growth during lactation ( J:163218 )

♀ • during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice

abnormal mammary gland growth during pregnancy ( J:163218 )

♀ • during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice

lactation failure ( J:163218 )

♀

reproductive system

abnormal mammary gland growth during pregnancy ( J:163218 )

♀ • during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice

cellular

decreased mammary gland epithelial cell proliferation ( J:163218 )

♀ • mammary progenitor cells exhibit impaired expansion compared to in wild-type mice

♀ • however, mammary progenitor cell differentiation is normal