Hfm Gene Detail

Summary

• Symbol
  Hfm
• Name
  hemifacial microsomia-associated locus

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:105953
  NCBI Gene: 107693
• Alliance
  gene page

Location &
Maps

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

• Genetic Map
  Chromosome 10, cytoband B1-3
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with Hfm mouse models

Human Disease

Mouse Models

Goldenhar syndrome

IDs

Goldenhar syndrome      

DOID:2907
ICD10CM:Q87.0
MESH:D006053
NCI:C84740
OMIM:164210
ORDO:374
UMLS_CUI:C0265240

View 1 model

Mouse Models

Human Disease Modeled: Goldenhar syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
Hfm/Hfm+	involves: SWV-Mbp^shi	J:21097	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
  6 phenotypes from 1 allele in 1 genetic background
  3 phenotype references
  

• All Mutations and Alleles
  1
• Transgenic
  1
• Genomic Mutations
  1 involving Hfm
• Find Mice (IMSR)
  0 strains or lines available

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.

Sequences &
Gene Models

• NCBI Gene
  107693

Other
Accession IDs

MGD-MRK-33632

References

• Summaries
  All 4

  Diseases 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