Phenotypes Associated with This Genotype

Genotype
MGI:3850047

• Allelic Composition: Itpk1^{Gt(DTM066)Byg}/Itpk1^{Gt(DTM066)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:150075 )

• inferred from disappearance of abnormal embryos between E11.5 and E12.5

nervous system

abnormal neural tube closure ( J:150075 )

• at E9.5, 17% of mice exhibit neural tube defects

• at E10.5, 11% of mice exhibit neural tube defects

• at E11.5, 17% of mice exhibit neural tube defects

• at E12.5, 4% of mice exhibit neural tube defects

meningomyelocele ( J:150075 )

• at E11.5, some mice exhibit myelomeningocele

spina bifida ( J:150075 )

• between E9.5 and E11.5, 12% of mice exhibit exencephaly and/or spina bifida

• at E11.5, some mice exhibit myelomeningocele

exencephaly ( J:150075 )

• between E9.5 and E11.5, 12% of mice exhibit exencephaly and/or spina bifida

• at E10.5 to varying degrees in some mice

growth/size/body

embryonic growth retardation ( J:150075 )

• at E9.5, 6% of mice exhibit severe growth retardation compared with wild-type mice

• however, by E12.5 mice exhibit normal growth

decreased embryo size ( J:150075 )

• at E9.5, 6% of mice are greater than 50% smaller than wild-type mice

small thoracic cavity ( J:150075 )

• in some mice

skeleton

meningomyelocele ( J:150075 )

• at E11.5, some mice exhibit myelomeningocele

abnormal rib morphology ( J:150075 )

• ribs of some mice are malformed and disorganized unlike in wild-type mice

kyphoscoliosis ( J:150075 )

• severe at E14.5 in some mice

embryo

embryonic growth retardation ( J:150075 )

• at E9.5, 6% of mice exhibit severe growth retardation compared with wild-type mice

• however, by E12.5 mice exhibit normal growth

decreased embryo size ( J:150075 )

• at E9.5, 6% of mice are greater than 50% smaller than wild-type mice

abnormal neural tube closure ( J:150075 )

• at E9.5, 17% of mice exhibit neural tube defects

• at E10.5, 11% of mice exhibit neural tube defects

• at E11.5, 17% of mice exhibit neural tube defects

• at E12.5, 4% of mice exhibit neural tube defects

meningomyelocele ( J:150075 )

• at E11.5, some mice exhibit myelomeningocele

spina bifida ( J:150075 )

• between E9.5 and E11.5, 12% of mice exhibit exencephaly and/or spina bifida

• at E11.5, some mice exhibit myelomeningocele