Symbol
Name
ID

Mfsd2a
MFSD2 lysolipid transporter A, lysophospholipid
MGI:1923824

Phenotype annotations related to nervous system

*	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
Availability	Mouse Genotype	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
	Mfsd2a^tm1Dls/Mfsd2a^tm1Dls	*
	Mfsd2a^tm1Lex/Mfsd2a^tm1Lex

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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