All Phenotypes Scn8a<med-jo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Scn8a^med-jo
jolting
MGI:1856080

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn8a^med-jo/Scn8a^med-jo	DBA/2WyDi-Scn8a^med-jo	MGI:3818087
ht2	Scn8a^med-jo/Scn8a⁺	B6.D2-Scn8a^med-jo/J	MGI:3818173
cx3	Scn1a^tm1Wac/Scn1a^tm1Wac Scn8a^med-jo/Scn8a⁺	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818177
cx4	Scn1a^tm1Wac/Scn1a⁺ Scn8a^med-jo/Scn8a⁺	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818178
cx5	Scn1a^tm1.1Aesc/Scn1a⁺ Scn8a^med-jo/Scn8a⁺	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950074
cx6	Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc Scn8a^med-jo/Scn8a⁺	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950075

Allelic Composition	Scn8a^med-jo/Scn8a^med-jo
Genetic Background	DBA/2WyDi-Scn8a^med-jo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-jo mutation (1 available); any Scn8a mutation (99 available)

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

behavior/neurological

tremors ( J:15056 )

• mice exhibit shivering or quaking in the anterior portion of the body

impaired limb coordination ( J:15056 )

• hind limb

muscle

muscle phenotype ( J:24907 )

N	• skeletal musculature is normal

nervous system

nervous system phenotype ( J:24907 )

N	• peripheral nerves are normal

Purkinje cell degeneration ( J:14894 )

• at 6 months of age, mice exhibit a progressive loss of Purkinje cells in the vermis and medial portion of the cerebellar hemisphere

abnormal nervous system electrophysiology ( J:14894 )

• between 1 and 9 months of age, cells within the Purkinje cell layer exhibit reduced spontaneous activity compared to in wild-type mice

Allelic Composition	Scn8a^med-jo/Scn8a⁺
Genetic Background	B6.D2-Scn8a^med-jo/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med-jo mutation (1 available); any Scn8a mutation (99 available)

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

behavior/neurological

decreased susceptibility to pharmacologically induced seizures ( J:129998 , J:170734 )

• following exposure to flurothyl, mice exhibit a 31% increase in latency to myoclonic jerk and a 55% increase in latency to generalized tonic-clonic seizure compared to in similarly treated wild-type mice (J:129998)

• following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice (J:129998)

• average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures (J:170734)

abnormal spike wave discharge ( J:147199 )

• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice

• the average incidence of SWD is lower than in Scn8a^med heterozygotes

nervous system

decreased susceptibility to pharmacologically induced seizures ( J:129998 , J:170734 )

• following exposure to kainic acid, mice exhibit reduced GTCS compared to similarly treated wild-type mice (J:129998)

• average latency to flurothyl-induced generalized tonic-clonic seizures is 30% longer than in wild-type mice, indicating increased resistance to flurothyl-induced seizures (J:170734)

abnormal spike wave discharge ( J:147199 )

• mice exhibit spike wave discharge (SWD) accompanied by behavior arrest unlike wild-type mice

• the average incidence of SWD is lower than in Scn8a^med heterozygotes

Allelic Composition	Scn1a^tm1Wac/Scn1a^tm1Wac Scn8a^med-jo/Scn8a⁺
Genetic Background	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1a^tm1Wac mutation (0 available); any Scn1a mutation (114 available)
Scn8a^med-jo mutation (1 available); any Scn8a mutation (99 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:129998 )

• some mice survive beyond P15 but die by P18

Allelic Composition	Scn1a^tm1Wac/Scn1a⁺ Scn8a^med-jo/Scn8a⁺
Genetic Background	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

Find Mice

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

mortality/aging

mortality/aging ( J:129998 )

N	• mice exhibit no abnormal lethality through P150

nervous system

nervous system phenotype ( J:129998 )

N	• mice exhibit a normal threshold to flurothyl-induced generalized tonic-clonic seizure

abnormal spike wave discharge ( J:129998 )

• unlike Scn1a^tm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components

behavior/neurological

abnormal spike wave discharge ( J:129998 )

• unlike Scn1a^tm1Wac heterozygotes, mice exhibit brief spike wave discharges associated with behavioral arrest that are not accompanied by behavioral components

Allelic Composition	Scn1a^tm1.1Aesc/Scn1a⁺ Scn8a^med-jo/Scn8a⁺
Genetic Background	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn1a^tm1.1Aesc mutation (0 available); any Scn1a mutation (114 available)
Scn8a^med-jo mutation (1 available); any Scn8a mutation (99 available)

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

behavior/neurological

behavior/neurological phenotype ( J:170734 )

N	• average latency to flurothyl-induced generalized tonic-clonic seizures is 50% longer when compared to single heterozygous Scn1a mice, but no different from wild-type indicating that seizure thresholds are restored to normal levels

Allelic Composition	Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc Scn8a^med-jo/Scn8a⁺
Genetic Background	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi

Find Mice

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

mortality/aging

decreased survivor rate ( J:170734 )

• 47% of mutants survive for over 100 days

postnatal lethality, incomplete penetrance ( J:170734 )

• 25% mortality at P25

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