Phenotypes associated with this allele

• Allele Symbol: Tor1a^tm1Yql
• Allele Name: targeted mutation 1, Yuqing Li
• Allele ID: MGI:3613019
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tor1a^tm1Yql/Tor1a^tm1Yql	involves: 129S2/SvPas * C57BL/6	MGI:3613372
ht2	Tor1a^tm1Yql/Tor1a^+	involves: 129S2/SvPas * C57BL/6	MGI:3613373

Genotype
MGI:3613372

hm1

• Allelic Composition: Tor1a^tm1Yql/Tor1a^tm1Yql
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:104513 )

• homozygotes never identified after birth but actual time of lethality not reported

Genotype
MGI:3613373

ht2

• Allelic Composition: Tor1a^tm1Yql/Tor1a⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

behavior/neurological

impaired balance ( J:104513 )

♂ • males only slipped about 215% more than controls in beam walking tests at 6 months

abnormal locomotor behavior ( J:104513 )

abnormal gait ( J:104513 )

• larger overlap of paw placement in gait analysis

increased locomotor activity ( J:104513 )

♂ • in males as measured in open field tests

♂ • horizontal activity only

nervous system

abnormal pontine nuclei morphology ( J:104513 )

♂ • protein aggregates of torsinA and ubiquitin surrounding the nucleus in cells of the pontine nuclei

♂ • in males only

homeostasis/metabolism

decreased dopamine level ( J:104513 )

♂ • although dopamine levels and the levels of most metabolites were normal, 4-hydroxy-3-methoxyphenylacetic acid level is reduced 27%

♂ • in males only

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:104513