Del(MTmt-Tk-mt-Nd5)1Jiha Cytogenetic Marker Detail

Summary

• Symbol
  Del(MTmt-Tk-mt-Nd5)1Jiha
• Name
  deletion, MT, Jun-Ichi Hayashi 1
• Synonyms
  Del1Jiha

• Feature Type
  chromosomal deletion
• IDs
  MGI:3776661

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome MT, Syntenic

Human Diseases

• Diseases
  1 with Del(MTmt-Tk-mt-Nd5)1Jiha mouse models

Human Disease

Mouse Models

mitochondrial myopathy

IDs

mitochondrial myopathy      

DOID:699
MESH:D017240
NCI:C101328
OMIM:251900
UMLS_CUI:C0162670

View 1 model

Mouse Models

Human Disease Modeled: mitochondrial myopathy

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(MTmt-Tk-mt-Nd5)1Jiha	involves: C57BL/6J * CBA	J:103743	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  43 phenotypes from 1 allele in 3 genetic backgrounds
  2 images
  14 phenotype references
  

• All Mutations and Alleles
  1
• Spontaneous
  1
• Find Mice (IMSR)
  0 strains or lines available

Mice with a majority of their mitochondria carrying this deletion exhibit decreased mitochondrial oxidation, enlarged kidneys, dilated tubules, kidney failure, deafness, diabetic symptoms, myopathy, decreased body weight, reduced fertility and premature death.

References

• Summaries
  All 15

  Diseases 1

  Phenotypes 14
• Earliest
  J:65025 Inoue K, et al., Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet. 2000 Oct;26(2):176-81
• Latest
  J:303932 Ishikawa K, et al., Attempts to understand the mechanisms of mitochondrial diseases: The reverse genetics of mouse models for mitochondrial disease. Biochim Biophys Acta Gen Subj. 2021 Mar;1865(3):129835