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Symbol
Name
ID
Macf1
microtubule-actin crosslinking factor 1
MGI:108559
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Optic nerve hypoplasia
Hypertelorism
Strabismus
Cerebral visual impairment
Disease(s) Associated with MACF1
lissencephaly 9 with complex brainstem malformation

Mouse Phenotypes
abnormal photoreceptor connecting cilium morphology
abnormal retina bipolar cell morphology
absent photoreceptor inner segment
absent photoreceptor outer segment
retina photoreceptor degeneration
abnormal retina development
abnormal retina morphology
abnormal retina neuronal layer morphology
thin retina outer nuclear layer
abnormal retina photoreceptor layer morphology
abnormal electroretinogram waveform feature
decreased a-wave amplitude
decreased b-wave amplitude
absent b-wave
Availability Mouse Genotype
Macf1tm1Efu/Macf1tm1Efu
Tg(Six3-cre)69Frty/0  (conditional)
Macf1tm1Efu/Macf1tm1Efu
Tg(rx3-icre)1Mjam/0  (conditional)
Macf1tm1Efu/Macf1tm1Efu  (conditional)

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
04/16/2024
MGI 6.23
The Jackson Laboratory