Phenotypes associated with this allele

• Allele Symbol: Scn1a^tm1Kzy
• Allele Name: targeted mutation 1, Kazuhiro Yamakawa
• Allele ID: MGI:3713733
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn1a^tm1Kzy/Scn1a^tm1Kzy	involves: 129P2/OlaHsd * C57BL/6	MGI:3713741
ht2	Scn1a^tm1Kzy/Scn1a^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3713740

Genotype
MGI:3713741

hm1

• Allelic Composition: Scn1a^tm1Kzy/Scn1a^tm1Kzy
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:121969 )

• mean life time is 15.8+/-0.8 days regardless of weight

behavior/neurological

abnormal involuntary movement ( J:121969 )

• between P12 and P16

jerky movement ( J:121969 )

• between P12 and P16

abnormal gait ( J:121969 )

• at P10, mice have abnormal and unstable gait

seizures ( J:121969 )

• recurrent seizures develop at P12

• between P12 and P16, seizures last 1 to 3 minutes and occur at intervals of about 1 to 4 hours

• however, genetic background percentage has little effect on seizure occurrences

tonic seizures ( J:121969 )

• between P12 and P16

tonic-clonic seizures ( J:121969 )

• between P12 and P16

growth/size/body

decreased body weight ( J:121969 )

• between P14 and P15 there is a 40% reduction in body weight compared with controls

weight loss ( J:121969 )

• due to malnutrition from P10

nervous system

seizures ( J:121969 )

• recurrent seizures develop at P12

• between P12 and P16, seizures last 1 to 3 minutes and occur at intervals of about 1 to 4 hours

• however, genetic background percentage has little effect on seizure occurrences

tonic seizures ( J:121969 )

• between P12 and P16

tonic-clonic seizures ( J:121969 )

• between P12 and P16

decreased brain size ( J:121969 )

decreased brain weight ( J:121969 )

Genotype
MGI:3713740

ht2

• Allelic Composition: Scn1a^tm1Kzy/Scn1a⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

premature death ( J:121969 )

• spontaneous death occurs at 25% and 40% within the first and third postnatal months, respectively

behavior/neurological

seizures ( J:121969 )

• beginning at P3 and exhibiting recurrent spontaneous seizures after P18

• however, genetic background percentage has little effect on seizure occurrences

nervous system

seizures ( J:121969 )

• beginning at P3 and exhibiting recurrent spontaneous seizures after P18

• however, genetic background percentage has little effect on seizure occurrences