Tg(Thy1-VAPB*P56S,-EGFP)D3Cai
Transgene Detail

Summary

• Symbol: Tg(Thy1-VAPB*P56S,-EGFP)D3Cai
• Name: transgene insertion D3, Huaibin Cai
• MGI ID: MGI:5544194
• Synonyms: P56S VAPB Tg
• Transgene: Tg(Thy1-VAPB*P56S,-EGFP)D3Cai Location: unknown
• Alliance: Tg(Thy1-VAPB*P56S,-EGFP)D3Cai page

Transgene origin

• Strain of Origin: C57BL/6

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Thy1-VAPB*P56S,-EGFP)D3Cai expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  VAPB (9217)

  Vapb	(MGI:1928744)

• Mutation details: The human VAPB cDNA with a substitution of proline with serine at residue 56 (P56S) is under the control of a pan-neuronal promoter Thy1.2. Three lines were generated. qRT-PCR indicated more than 20-fold overexpression of mRNA. Protein expression was detected in the cerebral cortex, spinal cord, striatum, and hippocampus. (J:202148)

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)
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tg1  Disease Model	Tg(Thy1-VAPB*P56S,-EGFP)D3Cai/0	C57BL/6-Tg(Thy1-VAPB*P56S,-EGFP)D3Cai

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms Sex:
behavior/neurological	√
impaired coordination	√
short stride length	√
increased vertical activity	√
increased locomotor activity	√
growth/size/body	√
decreased body weight	√
nervous system	√
abnormal corticospinal tract morphology	√
abnormal neuron morphology	√
decreased motor neuron number	√
motor neuron degeneration	√
abnormal synaptic bouton morphology	√
abnormal nervous system physiology	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
amyotrophic lateral sclerosis type 8 IDs amyotrophic lateral sclerosis type 8       DOID:0050752 OMIM:608627 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

References

• Original: J:202148 Aliaga L, et al., Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. Hum Mol Genet. 2013 Nov 1;22(21):4293-305
• All: 1 reference(s)