Phenotypes Associated with This Genotype

Genotype
MGI:3699502

• Allelic Composition: Cask^tm1Sud/Cask^tm1.1Sud; Tg(Prm-cre)58Og/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

Cleft palate in Cask^tm1Sud/Cask^tm1.1Sud Tg(Prm-cre)580g/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:117978 )

♀ • die within a few hours of birth

craniofacial

palatal shelves fail to meet at midline ( J:117978 )

♀

cleft secondary palate ( J:117978 )

♀ • observed in homozygotes with ~80% penetrance

digestive/alimentary system

palatal shelves fail to meet at midline ( J:117978 )

♀

cleft secondary palate ( J:117978 )

♀ • observed in homozygotes with ~80% penetrance

nervous system

nervous system phenotype ( J:117978 )

♀N • synapse formation and membrane properties of cultured neurons are not significantly different from wild-type neurons; vesicle pool sizes and evoked neurotransmitter release are similar in mutant and wild-type neurons

increased neuron apoptosis ( J:117978 )

♀ • number of apoptotic neurons in thalamus is increased 3-fold compared to controls

abnormal neurotransmitter secretion ( J:117978 )

♀ • excitatory spontaneous mini events show 2-fold increase in frequency in cultured neurons, while inhibitory minifrequency is decreased ~1.4 fold

respiratory system

respiratory failure ( J:117978 )

♀ • plethysmography of newborns shows severe postnatal respiratory failure

cellular

increased neuron apoptosis ( J:117978 )

♀ • number of apoptotic neurons in thalamus is increased 3-fold compared to controls

growth/size/body

palatal shelves fail to meet at midline ( J:117978 )

♀

cleft secondary palate ( J:117978 )

♀ • observed in homozygotes with ~80% penetrance