Phenotypes associated with this allele

• Allele Symbol: Scn1a^tm2.2Kzy
• Allele Name: targeted mutation 2.2, Kazuhiro Yamakawa
• Allele ID: MGI:5523788
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn1a^tm2.2Kzy/Scn1a^tm2.2Kzy	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5523883
ht2	Scn1a^tm2.2Kzy/Scn1a^+	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5523882

Genotype
MGI:5523883

hm1

• Allelic Composition: Scn1a^tm2.2Kzy/Scn1a^tm2.2Kzy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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

mortality/aging

postnatal lethality, complete penetrance ( J:202863 )

• animals die before P20 with average lifespan of 16.2 days

growth/size/body

weight loss ( J:202863 )

• malnutrition is observed by the third week postnatal

behavior/neurological

ataxia ( J:202863 )

• develops around P10

convulsive seizures ( J:202863 )

• mice are physically normal during the first postnatal week, but around P12 spontaneous generalized convulsive seizures develop

nervous system

convulsive seizures ( J:202863 )

• mice are physically normal during the first postnatal week, but around P12 spontaneous generalized convulsive seizures develop

Genotype
MGI:5523882

ht2

• Allelic Composition: Scn1a^tm2.2Kzy/Scn1a⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

mortality/aging

premature death ( J:202863 )

• some mice suffer sporadic sudden death after P18; about 22% (8/36) animals die before P35 with 25% (9/36) mortality by P90

behavior/neurological

convulsive seizures ( J:202863 )

• mice develop recurrent seizures by end of postnatal week 3

nervous system

convulsive seizures ( J:202863 )

• mice develop recurrent seizures by end of postnatal week 3