Phenotypes associated with this allele

• Allele Symbol: Prkd1^em1Dlp
• Allele Name: endonuclease-mediated mutation 1, Eric Delpire
• Allele ID: MGI:8280557
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prkd1^em1Dlp/Prkd1^em1Dlp	C57BL/6J-Prkd1^em1Dlp	MGI:8280559
ht2	Prkd1^em1Dlp/Prkd1^+	C57BL/6J-Prkd1^em1Dlp	MGI:8280560

Genotype
MGI:8280559

hm1

• Allelic Composition: Prkd1^em1Dlp/Prkd1^em1Dlp
• Genetic Background: C57BL/6J-Prkd1^em1Dlp

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

nervous system

increased myelin sheath thickness ( J:358380 )

• thicker myelin sheath around sural nerves

Genotype
MGI:8280560

ht2

• Allelic Composition: Prkd1^em1Dlp/Prkd1⁺
• Genetic Background: C57BL/6J-Prkd1^em1Dlp

behavior/neurological

behavior/neurological phenotype ( J:358380 )

N • normal locomotor behavior in accelerated rotarod, open field, Porsolt forced swimming, and gait tests

N • normal response in Von Frey and hotplate tests

increased susceptibility to induction of seizure by inducing agent ( J:358380 )

• increased susceptibility to and severity of kainic-acid-induced seizures

nervous system

nervous system phenotype ( J:358380 )

N • normal brain weight

increased susceptibility to induction of seizure by inducing agent ( J:358380 )

• increased susceptibility to and severity of kainic-acid-induced seizures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile myoclonic epilepsy		DOID:4890	OMIM:254770	J:358380