Phenotypes Associated with This Genotype

Genotype
MGI:4360188

• Allelic Composition: Inpp5e^tm1.2Ssch/Inpp5e^tm1.2Ssch
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:152712 )

• mice die soon after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:152712 )

• fewer than expected embryos are found at E18.5 (14.8% vs 25% expected)

embryonic lethality during organogenesis, incomplete penetrance ( J:152712 )

• fewer than expected embryos are found at E13.5 (16.9% vs 25% expected)

vision/eye

abnormal eye development ( J:152712 )

• eye development stops at the optic vesicle stage prior to the appearance of the optic cup

anophthalmia ( J:152712 )

• all show bilateral anophthalmia

renal/urinary system

abnormal renal tubule epithelial cell primary cilium morphology ( J:152712 )

• in cystic tubules primary cilia are sparse and appear dilated

• cilia in noncystic tubules appear normal

kidney cortex cyst ( J:152712 )

• about 2% of glomeruli are cystic

polycystic kidney ( J:152712 )

• seen in all mice

• cysts originate in the cortical collecting and connecting ducts, the proximal tubules and the descending limb of the loop of Henle

• only rarely are the glomeruli cystic

abnormal renal glomerular capsule morphology ( J:152712 )

• in cystic glomeruli cilia in Bowman's capsule appear abnormal

cellular

abnormal cilium morphology ( J:152712 )

• serum starved ciliated MEFs stimulated by growth factor signaling tend to lose their cilia and remaining cilia appear short and dilated, unlike similarly treated control MEFs

abnormal renal tubule epithelial cell primary cilium morphology ( J:152712 )

• in cystic tubules primary cilia are sparse and appear dilated

• cilia in noncystic tubules appear normal

limbs/digits/tail

abnormal phalanx morphology ( J:152712 )

• delayed ossification

postaxial polydactyly ( J:152712 )

• over 60% show postaxial hexadactyly

abnormal metacarpal bone morphology ( J:152712 )

• delayed ossification

craniofacial

palatal shelves fail to meet at midline ( J:152712 )

palatal shelf hypoplasia ( J:152712 )

cleft palate ( J:152712 )

• seen in 75% of mice

digestive/alimentary system

palatal shelves fail to meet at midline ( J:152712 )

palatal shelf hypoplasia ( J:152712 )

cleft palate ( J:152712 )

• seen in 75% of mice

skeleton

abnormal phalanx morphology ( J:152712 )

• delayed ossification

abnormal metacarpal bone morphology ( J:152712 )

• delayed ossification

split sternum ( J:152712 )

• seen in 50% of mice

delayed endochondral bone ossification ( J:152712 )

• delayed ossification of the metacarpals and phalanges

nervous system

anencephaly ( J:152712 )

• cerebral developmental defects, including anencephaly, are seen in 30% of mice at E15.5

exencephaly ( J:152712 )

• cerebral developmental defects, including exencephaly, are seen in 30% of mice at E15.5

growth/size/body

palatal shelves fail to meet at midline ( J:152712 )

palatal shelf hypoplasia ( J:152712 )

cleft palate ( J:152712 )

• seen in 75% of mice

kidney cortex cyst ( J:152712 )

• about 2% of glomeruli are cystic

polycystic kidney ( J:152712 )

• seen in all mice

• cysts originate in the cortical collecting and connecting ducts, the proximal tubules and the descending limb of the loop of Henle

• only rarely are the glomeruli cystic