About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory