All Phenotypes Tubb4a<Jit> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tubb4a^Jit/Tubb4a^Jit	FVB.B6-Tubb4a^Jit	MGI:6888378
ht2	Tubb4a^Jit/Tubb4a⁺	FVB.B6-Tubb4a^Jit	MGI:6888382
ht3	Tubb4a^Jit/Tubb4a^{tm1(KOMP)Wtsi}	involves: C57BL/6 * C57BL/6N * FVB/N	MGI:6888388
cn4	Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu} Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6N * CBA * FVB/N	MGI:6888390
cn5	Ifi208^{Tg(Cspg4-cre)1Akik}/Ifi208⁺ Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu}	involves: C57BL/6 * C57BL/6N * FVB/N * SJL	MGI:6888389

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

mortality/aging

premature death ( J:321692 )

• mice typically survive up to approximately 7 weeks

behavior/neurological

ataxia ( J:321692 )

• ataxic motor phenotypes

nervous system

increased neuron apoptosis ( J:321692 )

• loss of granule cell neurons occurs by apoptosis; increase in apoptotic cells at P21 and a highly significant increase at P35

abnormal cerebellum morphology ( J:321692 )

• cerebellar volume is reduced at P48

• however, neocortex thickness and layer organization are not different from wild-type mice

abnormal cerebellar granule cell morphology ( J:321692 )

• progressive degeneration of cerebellar granule cell neurons

• however, Purkinje cells are present similarly as in wild-type mice at P35

thin cerebellar granule layer ( J:321692 )

• progressive inner granule cell layer thinning; inner granule cell layer surface area is diminished, indicating atrophy and by P48, the inner granule layer is nearly absent with few granule cells present

• however, mice show normal size and organization of cerebellar granule cell neurons at P21, suggesting that granule cell neuron production is not affected and developmental program of granule cell neuron maturation is not affected

thin cerebellar molecular layer ( J:321692 )

• progressive molecular layer thinning

cerebellum atrophy ( J:321692 )

• reduction in size of cerebellum at P48; atrophy of the cerebellum is more severe than is accounted for by the lack of myelin

• by P35, but not at P21, the size of the cerebellum is reduced and the inner granule cell layer and molecular layer are thinner

abnormal nervous system tract morphology ( J:321692 )

• mice exhibit diminished white matter tracts at P48

neuron degeneration ( J:321692 )

• cerebellar granule cell neurons progressively degenerate between P21 and P48

abnormal oligodendrocyte physiology ( J:321692 )

• progressive cell death of oligodendrocytes

dysmyelination ( J:321692 )

• mice show a severe reduction of central myelin in all CNS regions including the forebrain and spinal cord at P48

• however, peripheral myelination is preserved

• thinned white matter tracts are evident in the corpus callosum and the spinal cord, consistent with reduced myelination

• cerebellum lacks myelin at P48

• mice show severe deficits in myelination in the corpus callosum at P21 and P48, with axons present but mostly with absent myelin sheaths

cellular

increased neuron apoptosis ( J:321692 )

• loss of granule cell neurons occurs by apoptosis; increase in apoptotic cells at P21 and a highly significant increase at P35

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 6		DOID:0060798	OMIM:612438	J:321692

Allelic Composition	Tubb4a^Jit/Tubb4a⁺
Genetic Background	FVB.B6-Tubb4a^Jit

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubb4a^Jit mutation (0 available); any Tubb4a mutation (30 available)

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

behavior/neurological

ataxia ( J:321692 )

• mice appear ataxic by 1 year of age

impaired coordination ( J:321692 )

• mice appear uncoordinated at advanced ages

• mice perform more poorly on the rotarod as early as P21, showing motor function deficits, and performance on the rotarod deteriorates with increased age

• however, grip strength appears unaffected

nervous system

abnormal cerebellar granule cell morphology ( J:321692 )

• reduction in the inner granule layer surface area, indicating granule cell neuron degeneration

cerebellum atrophy ( J:321692 )

• progressive cerebellar degeneration resulting in reduced cerebellum size

dysmyelination ( J:321692 )

• mild reduction in myelination in the anterior commissure, striatum, brainstem, and spinal cord at P21

• CNS shows progressive loss of myelin by 1 year of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 6		DOID:0060798	OMIM:612438	J:321692

Allelic Composition	Tubb4a^Jit/Tubb4a^{tm1(KOMP)Wtsi}
Genetic Background	involves: C57BL/6 * C57BL/6N * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tubb4a^Jit mutation (0 available); any Tubb4a mutation (30 available)
Tubb4a^{tm1(KOMP)Wtsi} mutation (1 available); any Tubb4a mutation (30 available)

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

mortality/aging

premature death ( J:321692 )

• mice survive up to approximately 14 weeks

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:321692 )

• motor defects

nervous system

abnormal cerebellar granule cell morphology ( J:321692 )

• mice show progressive degeneration of granule cell neurons such that the inner granule layer is largely devoid of granule cell neurons at P48

cerebellum atrophy ( J:321692 )

• P95 mice have severely atrophic cerebellum with the inner granule layer largely devoid of granule cell neurons at P48

• however, cerebellar phenotypes are less severe than in homozygous Tubb4a^Jit mice

abnormal nervous system tract morphology ( J:321692 )

• reduction in white matter tracts such as corpus callosum, anterior commissures, and striatal fascicles at P95

dysmyelination ( J:321692 )

• mice show progressive degeneration of myelin with reduced myelin at P48 and P95, however reduction in myelin is not as severe as in in homozygous Tubb4a^Jit mice

• cerebellum is severely demyelinated at P95

Allelic Composition	Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu} Tg(Atoh1-cre)1Bfri/0
Genetic Background	involves: C57BL/6 * C57BL/6N * CBA * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Atoh1-cre)1Bfri mutation (1 available)
Tubb4a^Jit mutation (0 available); any Tubb4a mutation (30 available)
Tubb4a^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Tubb4a mutation (30 available)

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

nervous system

abnormal cerebellar granule cell morphology ( J:321692 )

• loss of granule cell neurons

• however, no reduction of myelination levels is seen

Allelic Composition	Ifi208^{Tg(Cspg4-cre)1Akik}/Ifi208⁺ Tubb4a^Jit/Tubb4a^{tm1c(EUCOMM)Hmgu}
Genetic Background	involves: C57BL/6 * C57BL/6N * FVB/N * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ifi208^{Tg(Cspg4-cre)1Akik} mutation (1 available); any Ifi208 mutation (36 available)
Tubb4a^Jit mutation (0 available); any Tubb4a mutation (30 available)
Tubb4a^{tm1c(EUCOMM)Hmgu} mutation (0 available); any Tubb4a mutation (30 available)

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

nervous system

dysmyelination ( J:321692 )

• reduction of myelination in the hindbrain

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 05/21/2024 MGI 6.23