Phenotypes associated with this allele

• Allele Symbol: Sgce⁺
• Allele Name: wild type
• Allele ID: MGI:2437389
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sgce^Gt(148G1)Cmhd/Sgce^+	B6.129-Sgce^Gt(148G1)Cmhd	MGI:6332960
ht2	Sgce^tm1Ygl/Sgce^+	involves: 129S2/SvPas	MGI:5308942
cn3	Sgce^tm2.1Ygl/Sgce^+ Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJaeSor * 129X1/SvJ	MGI:5308944

Genotype
MGI:6332960

ht1

• Allelic Composition: Sgce^{Gt(148G1)Cmhd}/Sgce⁺
• Genetic Background: B6.129-Sgce^{Gt(148G1)Cmhd}

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

behavior/neurological

behavior/neurological phenotype ( J:251780 )

N • no evidence of myoclonus or limb dystonia is seen from the early postnatal period through 1.5 years of age when the allele is paternally inherited

N • myoclonus is not seen in response to audiogenic or tactile stimuli

abnormal behavior ( J:251780 )

• preweaning mice exhibit occasional stimulus-induced appendicular flexion posturing when the allele is inherited paternally

increased anxiety-related response ( J:251780 )

• males and females exhibit lower scores on the cross-maze test when the allele is inherited paternally

impaired coordination ( J:251780 )

• mice show more slips on the 9-mm round beam and the 9-mm square beam than wild-type mice when the allele is inherited paternally

• however, mice show normal behavior on the rotarod

abnormal gait ( J:251780 )

• preweaning mice exhibit tiptoe walking when the allele is inherited paternally

• males and females with the paternally inherited allele exhibit higher scores on the rating scale for abnormal movements

• males exhibit higher forepaw and hindpaw stride frequencies when the allele is inherited paternally

• hindpaw stance width is narrower when the allele is inherited paternally

short stride length ( J:251780 )

♂ • males exhibit shorter forepaw and hindpaw stride lengths when the allele is inherited paternally

decreased locomotor activity ( J:251780 )

• mice are less active on multiple parameters of the open-field activity when the allele is inherited paternally, with females showing a greater decrease in activity than males

growth/size/body

decreased body size ( J:251780 )

• mice at 10-15% smaller when the allele is inherited paternally

homeostasis/metabolism

increased noradrenaline level ( J:251780 )

• noradrenaline levels trend higher when the allele is inherited paternally

• however, monoamine levels are normal

Genotype
MGI:5308942

ht2

• Allelic Composition: Sgce^tm1Ygl/Sgce⁺
• Genetic Background: involves: 129S2/SvPas

behavior/neurological

impaired coordination ( J:180682 )

• when the allele is inherited paternally

myoclonus ( J:180682 )

• when the allele is inherited paternally

nervous system

myoclonus ( J:180682 )

• when the allele is inherited paternally

abnormal Purkinje cell morphology ( J:180682 )

• abnormal nuclear envelopes with blebbing when the allele is inherited paternally

muscle

myoclonus ( J:180682 )

• when the allele is inherited paternally

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myoclonic dystonia 11		DOID:0090034	OMIM:159900	J:180682

Genotype
MGI:5308944

cn3

• Allelic Composition: Sgce^tm2.1Ygl/Sgce⁺; Tg(Pcp2-cre)2Mpin/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJaeSor * 129X1/SvJ

behavior/neurological

behavior/neurological phenotype ( J:180682 )

N • when the allele is inherited paternally, mice exhibit normal posture, righting response, motor coordination and balance

N • when the allele is inherited paternally, mice do not exhibit significant myoclonus

abnormal motor learning ( J:180682 )

• when the allele is inherited paternally, mice exhibit impaired motor learning on a beam-walking test compared with control mice

decreased stereotypic behavior ( J:180682 )

• activity, movement number and movement time when the allele is inherited paternally

nervous system

nervous system phenotype ( J:180682 )

N • when the allele is inherited paternally, Purkinje cells exhibit normal nuclear envelops