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Hfm Gene Detail
Summary
  • Symbol
    Hfm
  • Name
    hemifacial microsomia-associated locus
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:105953
    NCBI Gene: 107693
Location & Maps
more
  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome 10, cytoband B1-3
  • Mapping Data
    1 experiment
Human Diseases
more
  • Diseases
    1 with Hfm mouse models

Human Disease Mouse Models
       Hemifacial Microsomia; HFM   OMIM: 164210 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
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    3 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
  • Transgenic
    1
  • Genomic Mutations
    1 involving Hfm
Mice heterozygous for an autosomal dominant insertional mutation that disrupts this locus exhibit hemifacial microsomia, including microtia, low set ear and abnormal bite, probably due to hypoplasia of the second branchial arch. Homozygotes die during the prenatal period.
Gene Ontology
(GO)
Classifications
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  • 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
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Other
Accession IDs
less
MGD-MRK-33632
References
more
  • Summaries
    All 4
    Diseases 1
    Gene Ontology 1
    Phenotypes 3
  • Earliest
    J:77548 Kimura M, et al., Restoration of myelin formation by a single type of myelin basic protein in transgenic shiverer mice. Proc Natl Acad Sci U S A. 1989 Jul;86(14):5661-5
  • Latest
    J:21097 Naora H, et al., Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. Genomics. 1994 Oct;23(3):515-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory