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exma Gene Detail
Summary
  • Symbol
    exma
  • Name
    exencephaly and severe microphthalmia/anophthalmia
  • Synonyms
    OVE597
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:1313145
    NCBI Gene: 14036
  • Alliance
Location &
Maps
more
  • Sequence Map
    ChrX:81992476-93167308 bp
    From MGI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, cytoband C/D
  • Mapping Data
    1 experiment
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    1 images
    1 phenotype reference
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.
Heterozygous mutant females exhibit reduced viability, patchy coat pigmentation and in some cases exencephaly and/or microphthalmia. Most hemizygous males exhibit an open, disorganized forebrain, fail to form optic vesicles and die at or before birth.
Sequences &
Gene Models
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References
more
  • Summaries
    All 2
    Phenotypes 1
  • Earliest
    J:76080 Cunningham D, et al., exma: an X-linked insertional mutation that disrupts forebrain and eye development. Mamm Genome. 2002 Apr;13(4):179-85

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory