Mdga2^{Tg(Prnp-PFN1*G118V)838Kiaei}
Transgenic Allele Detail

Summary

• Symbol: Mdga2^{Tg(Prnp-PFN1*G118V)838Kiaei}
• Name: MAM domain containing glycosylphosphatidylinositol anchor 2; transgene insertion 838, Mahmoud Kiaei
• MGI ID: MGI:5906301
• Synonyms: hPFN1^G118V, Tg(Prnp-PFN1*G118V)838Kiaei
• Gene: Mdga2 Location: Chr12:66512834-67269323 bp, - strand Genetic Position: Chr12, 27.63 cM
• Alliance: Mdga2^{Tg(Prnp-PFN1*G118V)838Kiaei} page

Transgene origin

• Strain of Origin: C57BL/6N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mdga2^{Tg(Prnp-PFN1*G118V)838Kiaei} expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  PFN1 (5216)

  Pfn1	(MGI:97549)

  G118V substitution

• Mutation details: The transgenic construct contains an untagged human profilin 1 (PFN1) cDNA sequence (420 bp) encoding the G118V mutant protein under the direction of mouse prion protein promoter. The G118V mutation is associated familial amyotrophic lateral sclerosis (fALS). Expression is detected in brain, spinal cord, and to a lesser extent in skeletal muscle. The transgene is not expressed in the liver. Founder line 838 was identified with total PFN1 protein levels in spinal cord at ~5-fold greater levels compared to endogenous mouse PFN1 protein levels in non-transgenic mice. The transgene inserted on chromosome 12 causing a 151 kb deletion in the Mdga2 (exons 2-3) gene, it is not known if insertion generated a null allele in Mdga2. (J:101977, J:241428)

Disease models

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 Mdga2 Mutation: 76 strains or lines available

References

• Original: J:241428 Fil D, et al., Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease. Hum Mol Genet. 2017 Feb 15;26(4):686-701
• All: 5 reference(s)