About   Help   FAQ
pma Gene Detail
Summary
  • Symbol
    pma
  • Name
    peroneal muscular atrophy
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:97628
    NCBI Gene: 18849
Location & Maps
more
  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome 5, Syntenic
  • Mapping Data
    1 experiment
Human Diseases
more
  • Diseases
    2 with pma mouse models

Human Disease Mouse Models
       Arthrogryposis Multiplex Congenita, Neurogenic Type; AMCN   OMIM: 208100 View 1 model
Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF   OMIM: 119800 View 1 model
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
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    1
  • Spontaneous
    1
Mice homozygous for a spontaneous allele display a club foot and ankle joint immobility at birth, show peroneal muscular atrophy in the hind limbs due to absence of the common peroneal nerve branch, and develop an unusual gait due to a dropped foot in adulthood.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Sequences &
Gene Models
less
Other
Accession IDs
less
MGD-MRK-13368
References
more
  • Summaries
    All 8
    Diseases 1
    Gene Ontology 3
    Phenotypes 6
  • Earliest
    J:6590 Esaki K, et al., [A new mutant in the mouse: peroneal muscular atrophy (author's transl)]. Jikken Dobutsu. 1981 Apr;30(2):151-5
  • Latest
    J:130500 Zammit PS, et al., Integration of embryonic and fetal skeletal myogenic programs at the myosin light chain 1f/3f locus. Dev Biol. 2008 Jan 1;313(1):420-33

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory