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Phenotypes Associated with This Genotype
Genotype
MGI:5792693
Allelic
Composition
Ptchd1tm2.2Gfng/Y
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptchd1tm2.2Gfng mutation (0 available); any Ptchd1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice exhibit normal simple spatial learning, repetitive grooming or social interaction
• mice exhibit ADHD-like behavior, including impaired attention performance with a visual distractor during anticipation
• however, mice exhibit normal sensorimotor performance and treatment with 1-EBIO mitigates distractibility
• profound unaffected by 1-EBIO treatment
• deficits in fear-induced freezing
• deficits in fear-induced freezing
• hyper-aggression that is unaffected by 1-EBIO treatment
• in an open field
• insensitive to amphetamine treatment
• however, treatment with 1-EBIO rescues hyperactivity
• highly fragmented sleep

nervous system
N
• thalamic reticular nucleus (TRN) neurons exhibit normal resting membrane potential, input resistance and escape from hyperpolarization
• under voltage clamp, TRN neurons exhibit reduced SK currents and a 2-fold reduction of resting state intracellular calcium compared with wild-type cells
• TRN neurons exhibit reduced burst firing in sleep, an overall reduction in sleep spindle count and overall diminished engagement in spindle events compared with wild-type cells
• reduced visual-evoked inhibitory transients compared with wild-type cells
• in response to trains of stimuli, TRN neurons exhibit impaired inhibition without an augmentation as a result of repeated stimulation compared with wild-type cells
• however, T currents are normal and acute injection of the SK positive allosteric modulator 1-ethyl-benzimidazolinone (1-EBIO) mitigates impaired sensory-evoked thalamic inhibition

muscle
• unaffected by 1-EBIO treatment


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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory