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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Casktm1Sud
targeted mutation 1, Thomas C Sudhof
MGI:3693354
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Casktm1Sud/Casktm1Sud involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:3699503
cn2
 		Casktm1Sud/Casktm1.1Sud
Tg(Prm-cre)58Og/0 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:3699502


Genotype
MGI:3699503
hm1
Allelic
Composition		 Casktm1Sud/Casktm1Sud
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casktm1Sud mutation (1 available); any Cask mutation (14 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:117978 )




Genotype
MGI:3699502
cn2
Allelic
Composition		 Casktm1Sud/Casktm1.1Sud
Tg(Prm-cre)58Og/0
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casktm1.1Sud mutation (0 available); any Cask mutation (14 available)
Casktm1Sud mutation (1 available); any Cask mutation (14 available)
Tg(Prm-cre)58Og mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Cleft palate in Casktm1Sud/Casktm1.1Sud Tg(Prm-cre)580g/0 mice

mortality/aging
neonatal lethality, complete penetrance ( J:117978 )
• die within a few hours of birth

craniofacial
cleft secondary palate ( J:117978 )
• observed in homozygotes with ~80% penetrance

digestive/alimentary system
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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory