About   Help   FAQ
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 (11 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory