Phenotypes associated with this allele

• Allele Symbol: Ptchd1^tm2.2Gfng
• Allele Name: targeted mutation 2.2, Guoping Feng
• Allele ID: MGI:5792687
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Ptchd1^tm2.2Gfng/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5792693

Genotype
MGI:5792693

ot1

• Allelic Composition: Ptchd1^tm2.2Gfng/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:232709 )

♂N • mice exhibit normal simple spatial learning, repetitive grooming or social interaction

abnormal cognition ( J:232709 )

♂ • 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

impaired avoidance learning behavior ( J:232709 )

♂ • profound unaffected by 1-EBIO treatment

impaired contextual conditioning behavior ( J:232709 )

♂ • deficits in fear-induced freezing

impaired cued conditioning behavior ( J:232709 )

♂ • deficits in fear-induced freezing

increased aggression ( J:232709 )

♂ • hyper-aggression that is unaffected by 1-EBIO treatment

abnormal gait ( J:232709 )

♂

hyperactivity ( J:232709 )

♂ • in an open field

♂ • insensitive to amphetamine treatment

♂ • however, treatment with 1-EBIO rescues hyperactivity

abnormal sleep pattern ( J:232709 )

♂ • highly fragmented sleep

nervous system

nervous system phenotype ( J:232709 )

♂N • thalamic reticular nucleus (TRN) neurons exhibit normal resting membrane potential, input resistance and escape from hyperpolarization

abnormal single cell response ( J:232709 )

♂ • 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

hypotonia ( J:232709 )

♂ • unaffected by 1-EBIO treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
attention deficit hyperactivity disorder		DOID:1094	OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312	J:232709