All Phenotypes Scn8a<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Scn8a⁺
wild type
MGI:2433062

Summary

16 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Scn8a^med-jo/Scn8a⁺	B6.D2-Scn8a^med-jo/J	MGI:3818173
ht2	Scn8a^9J/Scn8a⁺	B6J.C-Scn8a^9J/Mm	MGI:5766997
ht3	Scn8a^med/Scn8a⁺	C3Fe.Cg-Scn8a^med/J	MGI:3818171
ht4	Scn8a^M1Btlr/Scn8a⁺	C57BL/6J-Scn8a^M1Btlr	MGI:3810171
ht5	Scn8a^em1(IMPC)Bay/Scn8a⁺	C57BL/6N-Scn8a^em1(IMPC)Bay/BayMmucd	MGI:6731434
ht6	Scn8a^m10J/Scn8a⁺	FVB/NJ-Scn8a^m10J/GrsrCx	MGI:5882508
ht7	Scn8a^Clth/Scn8a⁺	involves: BALB/c	MGI:6102910
ht8	Scn8a^Clth/Scn8a⁺	involves: BALB/cAnN * C3H/HeH	MGI:4430223
ht9	Scn8a^8J/Scn8a⁺	involves: C3HeB/FeJ * C57BL/6J	MGI:3840657
ht10	Scn8a^em1Mm/Scn8a⁺	involves: C57BL/6J * SJL	MGI:5578216
cx11	Scn1a^tm1Wac/Scn1a^tm1Wac Scn8a^med-jo/Scn8a⁺	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818177
cx12	Scn1a^tm1Wac/Scn1a⁺ Scn8a^med-jo/Scn8a⁺	involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ	MGI:3818178
cx13	Scn1a^tm1.1Aesc/Scn1a^tm1.1Aesc Scn8a^med-jo/Scn8a⁺	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950075
cx14	Scn1a^tm1.1Aesc/Scn1a⁺ Scn8a^med-jo/Scn8a⁺	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * DBA/2WyDi	MGI:4950074
cx15	Gars1^C201R/Gars1⁺ Scn8a^m10J/Scn8a⁺	involves: BALB/cAnN * C3H/HeJ * FVB/NJ	MGI:5882425
cx16	Gars1^Nmf249/Gars1⁺ Scn8a^m10J/Scn8a⁺	involves: C57BL/6J * FVB/NJ	MGI:5882509

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	Scn8a^9J/Scn8a⁺
Genetic Background	B6J.C-Scn8a^9J/Mm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^9J mutation (1 available); any Scn8a mutation (99 available)

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

behavior/neurological

decreased locomotor activity ( J:230867 )

• in an unfamiliar environment, the distance traveled by heterozygotes is reduced

Allelic Composition	Scn8a^med/Scn8a⁺
Genetic Background	C3Fe.Cg-Scn8a^med/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^med 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 )

• following exposure to flurothyl, mice exhibit a 25% increase in latency to myoclonic jerk and a 58% increase in latency to generalized tonic-clonic seizure (GTCS) compared to in similarly treated wild-type mice

• following exposure to kainic acid, mice exhibit reduced seizure severity and no GTCS compared to similarly treated wild-type mice

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 higher than in Scn8a^med heterozygotes but lower than in Scn8a^8J heterozygotes

• ethosuximide treatment results in 11-fold fewer and shorter SWD compared to a 3-fold increase in frequencies following saline treatment

• the frequency of SWD during slow-wave sleep and paradoxical SWD are higher during the dark cycle than during the light cycle

nervous system

decreased susceptibility to pharmacologically induced seizures ( J:129998 )

• following exposure to kainic acid, mice exhibit reduced seizure severity and no GTCS compared to similarly treated wild-type mice

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 higher than in Scn8a^med heterozygotes but lower than in Scn8a^8J heterozygotes

• ethosuximide treatment results in 11-fold fewer and shorter SWD compared to a 3-fold increase in frequencies following saline treatment

• the frequency of SWD during slow-wave sleep and paradoxical SWD are higher during the dark cycle than during the light cycle

Allelic Composition	Scn8a^M1Btlr/Scn8a⁺
Genetic Background	C57BL/6J-Scn8a^M1Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^M1Btlr mutation (0 available); any Scn8a mutation (99 available)

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

behavior/neurological

tremors ( J:139714 )

• mice heterozygous for this mutation sometimes exhibit a mild tremor, which does not persist

abnormal gait ( J:139714 )

• heterozygous mutant mice sometimes exhibit a mild gait disturbance, which does not persist

Allelic Composition	Scn8a^em1(IMPC)Bay/Scn8a⁺
Genetic Background	C57BL/6N-Scn8a^em1(IMPC)Bay/BayMmucd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^em1(IMPC)Bay mutation (0 available); any Scn8a mutation (99 available)

Data Sources

IMPC Data for Scn8a

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

growth/size/body

increased spleen weight ( J:211773 )

IMPC - BCM

hematopoietic system

increased spleen weight ( J:211773 )

IMPC - BCM

immune system

increased spleen weight ( J:211773 )

IMPC - BCM

Allelic Composition	Scn8a^m10J/Scn8a⁺
Genetic Background	FVB/NJ-Scn8a^m10J/GrsrCx

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^m10J mutation (0 available); any Scn8a mutation (99 available)

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

nervous system

decreased nerve conduction velocity ( J:240096 )

• heterozgyotes have a modest reduction in nerve conduction velocity

Allelic Composition	Scn8a^Clth/Scn8a⁺
Genetic Background	involves: BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^Clth mutation (2 available); any Scn8a mutation (99 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:250208 )

N	• mice exhibit normal vestibular function, no evidence of otitis media and normal cochlear hair cell morphology and function

increased or absent threshold for auditory brainstem response ( J:250208 )

behavior/neurological

abnormal pinna reflex ( J:250208 )

• mild to absent response to the click-box

absent pinna reflex ( J:250208 )

• mild to absent response to the click-box

Allelic Composition	Scn8a^Clth/Scn8a⁺
Genetic Background	involves: BALB/cAnN * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^Clth mutation (2 available); any Scn8a mutation (99 available)

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

behavior/neurological

abnormal behavior ( J:155726 )

• as early as P25, some mice exhibit episodic periods of extended freezing behavior, piloerection, a hunched posture, and intermittent side-to-side coarse tremors unlike wild-type mice

• however, mice exhibit normal vestibular-dependent behaviors

abnormal pilomotor reflex ( J:155726 )

abnormal pinna reflex ( J:155726 )

• Peyer's reflex is mild or absent unlike in wild-type mice

absent pinna reflex ( J:155726 )

• in some mice

decreased startle reflex ( J:155726 )

• at 5 weeks of age, startle reflex is mild or absent compared to in wild-type mice

• impaired startle reflex worsens with age

tremors ( J:155726 )

• mice exhibit episodic tremors that increase in frequency and severity with age unlike wild-type mice

hunched posture ( J:155726 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:155726 )

N	• outer, middle, and inner ears are morphologically normal

increased or absent threshold for auditory brainstem response ( J:155726 )

• at 8 kHz

impaired hearing ( J:155726 )

• mild semi-dominant

growth/size/body

decreased body weight ( J:155726 )

• as early as 18 weeks

Allelic Composition	Scn8a^8J/Scn8a⁺
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^8J mutation (2 available); any Scn8a mutation (99 available)

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

behavior/neurological

abnormal spike wave discharge ( J:147199 )

• mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz

• SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching

• the average incidence of SWD is higher Scn8a^med heterozygotes

• ethosuximide treatment results in 6-fold fewer and shorter SWD

• the number of SWD per hour decreases with additional crosses to C57BL/6 mice

• mice exhibit fewer SWD compared to homozygous mice

nervous system

abnormal spike wave discharge ( J:147199 )

• mice exhibit robust spike wave discharge (SWD) with high amplitude, significant duration, high frequency, and a burst frequency of 7 to 9 Hz

• SWD occurs between periods of locomotor activity and cause immobility except for occasional whisker twitching

• the average incidence of SWD is higher Scn8a^med heterozygotes

• ethosuximide treatment results in 6-fold fewer and shorter SWD

• the number of SWD per hour decreases with additional crosses to C57BL/6 mice

• mice exhibit fewer SWD compared to homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:147199 , J:212131

Allelic Composition	Scn8a^em1Mm/Scn8a⁺
Genetic Background	involves: C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn8a^em1Mm mutation (0 available); any Scn8a mutation (99 available)

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

mortality/aging

premature death ( J:207931 )

• sudden unexpected death in epilepsy

behavior/neurological

abnormal behavior ( J:207931 )

seizures ( J:207931 )

• with sudden unexpected death in epilepsy

nervous system

seizures ( J:207931 )

• with sudden unexpected death in epilepsy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
early infantile epileptic encephalopathy		DOID:0050709		J:207931

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^tm1.1Aesc 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

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

Allelic Composition	Scn1a^tm1.1Aesc/Scn1a⁺ 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

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	Gars1^C201R/Gars1⁺ Scn8a^m10J/Scn8a⁺
Genetic Background	involves: BALB/cAnN * C3H/HeJ * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1^C201R mutation (2 available); any Gars1 mutation (42 available)
Scn8a^m10J mutation (0 available); any Scn8a mutation (99 available)

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

nervous system

abnormal motor neuron innervation pattern ( J:240096 )

• neuromuscular junction innervation is decreased compared with either parental mutants, with an increase in both partial innervation and denervation

abnormal neuromuscular synapse morphology ( J:240096 )

decreased nerve conduction velocity ( J:240096 )

• nerve conduction velocity is lower than in either parental mutant

Allelic Composition	Gars1^Nmf249/Gars1⁺ Scn8a^m10J/Scn8a⁺
Genetic Background	involves: C57BL/6J * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gars1^Nmf249 mutation (1 available); any Gars1 mutation (42 available)
Scn8a^m10J mutation (0 available); any Scn8a mutation (99 available)

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

muscle

skeletal muscle atrophy ( J:240096 )

• slightly more severe than the parental heterozygote

nervous system

abnormal neuromuscular synapse morphology ( J:240096 )

• decreased neuromuscular junction innervation compared with either parental heterozygotes

decreased nerve conduction velocity ( J:240096 )

• decreased relative to either parental heterozygote

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