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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tbc1d24em2Tbf
endonuclease-mediated mutation 2, Thomas B Friedman
MGI:6195494
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tbc1d24em2Tbf/Tbc1d24em2Tbf C57BL/6J-Tbc1d24em2Tbf MGI:6306133
ht2
 		Tbc1d24em2Tbf/Tbc1d24em5Tbf C57BL/6J-Tbc1d24em2Tbf Tbc1d24em5Tbf MGI:6490529


Genotype
MGI:6306133
hm1
Allelic
Composition		 Tbc1d24em2Tbf/Tbc1d24em2Tbf
Genetic
Background		 C57BL/6J-Tbc1d24em2Tbf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbc1d24em2Tbf mutation (0 available); any Tbc1d24 mutation (82 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:273646 )
• by 3 weeks of age, all mice die likely due to seizures or general prostration

behavior/neurological
tonic-clonic seizures ( J:273646 )
• mice exhibit spontaneous tonic-clonic seizures that are detected after P15
• seizures manifest as wild running and then convulsions, followed by a postictal state

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:273646 )
N
• mice exhibit normal auditory and vestibular function and normal inner ear sensory epithelia

nervous system
nervous system phenotype ( J:273646 )
N
• mice exhibit normal gross brain anatomy
tonic-clonic seizures ( J:273646 )
• mice exhibit spontaneous tonic-clonic seizures that are detected after P15
• seizures manifest as wild running and then convulsions, followed by a postictal state

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
developmental and epileptic encephalopathy 16 DOID:0080449 OMIM:615338
 J:273646




Genotype
MGI:6490529
ht2
Allelic
Composition		 Tbc1d24em2Tbf/Tbc1d24em5Tbf
Genetic
Background		 C57BL/6J-Tbc1d24em2Tbf Tbc1d24em5Tbf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbc1d24em2Tbf mutation (0 available); any Tbc1d24 mutation (82 available)
Tbc1d24em5Tbf mutation (0 available); any Tbc1d24 mutation (82 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:299025 )
• mice usually die between P15 and P20

behavior/neurological
seizures ( J:299025 )
• mice die around P20 due to seizures

nervous system
seizures ( J:299025 )
• mice die around P20 due to seizures

hearing/vestibular/ear
hearing/vestibular/ear phenotype ( J:299025 )
N
• mice exhibit normal hearing at P17, showing normal auditory brain stem response




Contributing Projects:
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
09/30/2025
MGI 6.24 		The Jackson Laboratory