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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Thap1tm1.2Meeh
targeted mutation 1.2, Michelle E Ehrlich
MGI:6107688
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Thap1tm1.2Meeh/Thap1tm1.2Meeh involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6 MGI:6107697
ht2
 		Thap1tm1.2Meeh/Thap1+ involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6 MGI:6107698
ht3
 		Thap1tm1.1Meeh/Thap1tm1.2Meeh involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6 MGI:6107699


Genotype
MGI:6107697
hm1
Allelic
Composition		 Thap1tm1.2Meeh/Thap1tm1.2Meeh
Genetic
Background		 involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thap1tm1.2Meeh mutation (0 available); any Thap1 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal axon extension ( J:226849 )
• few Tuj1-immunopositive neurons
• no obvious processes on Tuj1-immunopositive neurons

liver/biliary system

mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:226849 )
• most embryos died by E10, but rare survivors up to E14

nervous system
abnormal axon extension ( J:226849 )
• few Tuj1-immunopositive neurons
• no obvious processes on Tuj1-immunopositive neurons

vision/eye




Genotype
MGI:6107698
ht2
Allelic
Composition		 Thap1tm1.2Meeh/Thap1+
Genetic
Background		 involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thap1tm1.2Meeh mutation (0 available); any Thap1 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal gait ( J:226849 , J:226849 )
• increase in foot-slips on narrow beam in beam walking challenge (J:226849)
• 10% decrease in forepaw base width and 20% increase in front and hind paw overlap (J:226849)
• slower in both orienting downwards and descending in pole test (J:226849)
• 5% increase in forepaw stride length and 17% increase in forepaw base width (J:226849)
• faster orienting downwards in pole test (J:226849)

nervous system
abnormal cerebellum dentate nucleus morphology ( J:226849 )
• hypocellularity: 40% decrease in cell number

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
torsion dystonia 6 DOID:0090039 OMIM:602629
 J:226849




Genotype
MGI:6107699
ht3
Allelic
Composition		 Thap1tm1.1Meeh/Thap1tm1.2Meeh
Genetic
Background		 involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Thap1tm1.1Meeh mutation (0 available); any Thap1 mutation (34 available)
Thap1tm1.2Meeh mutation (0 available); any Thap1 mutation (34 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal axon extension ( J:226849 )
• few Tuj1-immunopositive neurons
• no obvious processes on Tuj1-immunopositive neurons

liver/biliary system

mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:226849 )
• most embryos died by E10, but rare survivors up to E14

nervous system
abnormal axon extension ( J:226849 )
• few Tuj1-immunopositive neurons
• no obvious processes on Tuj1-immunopositive neurons

vision/eye




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory