Tubb4a^Jit
Chemically induced Allele Detail

Summary

• Symbol: Tubb4a^Jit
• Name: tubulin, beta 4A class IVA; Jittering
• MGI ID: MGI:6887964
• Gene: Tubb4a Location: Chr17:57387061-57394600 bp, - strand Genetic Position: Chr17, 29.66 cM
• Alliance: Tubb4a^Jit page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was identified in a screen to identify genes required for nervous system development. It is a T to A transversion at position 1242 resulting in an asparagine to lysine amino acid substitution at position 414 (N414K). (J:321692)
• Inheritance: Dominant

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Tubb4a^Jit/Tubb4a^Jit	FVB.B6-Tubb4a^Jit
ht2  Disease Model	Tubb4a^Jit/Tubb4a^+	FVB.B6-Tubb4a^Jit
ht3	Tubb4a^Jit/Tubb4a^tm1(KOMP)Wtsi	involves: C57BL/6 * C57BL/6N * FVB/N
cn4	Tubb4a^Jit/Tubb4a^tm1c(EUCOMM)Hmgu Tg(Atoh1-cre)1Bfri/0	involves: C57BL/6 * C57BL/6N * CBA * FVB/N
cn5	Ifi208^Tg(Cspg4-cre)1Akik/Ifi208^+ Tubb4a^Jit/Tubb4a^tm1c(EUCOMM)Hmgu	involves: C57BL/6 * C57BL/6N * FVB/N * SJL

Phenotypes:

Affected Systems	hm1	ht2	ht3	cn4	cn5
show or hide all annotated terms
behavior/neurological	√	√	√
abnormal motor capabilities/coordination/movement			√
ataxia	√	√
impaired coordination		√
cellular	√
increased neuron apoptosis	√
mortality/aging	√		√
premature death	√		√
nervous system	√	√	√	√	√
increased neuron apoptosis	√
abnormal cerebellum morphology	√
abnormal cerebellar granule cell morphology	√	√	√	√
thin cerebellar granule layer	√
thin cerebellar molecular layer	√
cerebellum atrophy	√	√	√
abnormal nervous system tract morphology	√		√
neuron degeneration	√
abnormal oligodendrocyte physiology	√
dysmyelination	√	√	√		√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1	ht2
hypomyelinating leukodystrophy 6 IDs hypomyelinating leukodystrophy 6       DOID:0060798 ICD10CM:E75.2 OMIM:612438 ORDO:139441 Close	√	√

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tubb4a Mutation: 30 strains or lines available

References

• Original: J:321692 Fertuzinhos S, et al., A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy. Sci Adv. 2022 Feb 18;8(7):eabf7262
• All: 1 reference(s)