Symbol Name ID |
Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid MGI:1923824 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Progressive microcephaly |
Spastic tetraparesis |
Spastic gait |
Hypoplasia of the brainstem |
Ventriculomegaly |
Hypoplasia of the corpus callosum |
Cerebellar hypoplasia |
Ataxia |
Absent speech |
Autistic behavior |
Intellectual disability, severe |
Hyperreflexia |
Inability to walk |
Global developmental delay |
Seizure |
Disease(s) Associated with MFSD2A | ||||||||||||||||
primary autosomal recessive microcephaly 15 |
Mouse Phenotypes | nervous system phenotype |
impaired blood-brain barrier function |
abnormal microglial cell activation |
short photoreceptor outer segment |
abnormal retina rod cell outer segment morphology |
disorganized photoreceptor outer segment |
abnormal nervous system physiology |
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Availability | Mouse Genotype | |||||||
Mfsd2atm1Dls/Mfsd2atm1Dls | * | |||||||
Mfsd2atm1Lex/Mfsd2atm1Lex |
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 05/21/2024 MGI 6.23 |
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