Phenotypes associated with this allele

• Allele Symbol: Sgce^tm1Ygl
• Allele Name: targeted mutation 1, Yuqing Li
• Allele ID: MGI:3604206
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sgce^tm1Ygl/Sgce^tm1Ygl	involves: 129S2/SvPas * 129S4/SvJaeSor * BALB/c * C57BL/6	MGI:3618238
ht2	Sgce^tm1Ygl/Sgce^+	involves: 129S2/SvPas	MGI:5308942

Genotype
MGI:3618238

hm1

• Allelic Composition: Sgce^tm1Ygl/Sgce^tm1Ygl
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * BALB/c * C57BL/6

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

behavior/neurological

impaired balance ( J:101332 )

impaired coordination ( J:101332 )

myoclonus ( J:101332 )

• increased myoclonus

muscle

myoclonus ( J:101332 )

• increased myoclonus

nervous system

myoclonus ( J:101332 )

• increased myoclonus

cellular

maternal imprinting ( J:101332 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myoclonic dystonia 11		DOID:0090034	OMIM:159900	J:101332

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