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Symbol
Name
ID 		Mafb
MAF bZIP transcription factor B
MGI:104555
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
Blepharospasm
Oculomotor apraxia
Oculomotor nerve palsy
Gustatory lacrimation
Spina bifida occulta
Gait disturbance
Inability to walk
Global developmental delay
Seizure
Disease(s) Associated with MAFB
Duane retraction syndrome
multicentric carpotarsal osteolysis syndrome

Mouse Phenotypes
nervous system phenotype
abnormal neural tube morphology
abnormal rhombomere morphology
abnormal rhombomere 4 morphology
abnormal rhombomere 5 morphology
abnormal inner hair cell synaptic ribbon morphology
abnormal hindbrain development
abnormal brainstem morphology
abnormal hindbrain morphology
abnormal innervation pattern to muscle
abnormal cochlear ganglion morphology
abnormal abducens nerve morphology
absent abducens nerve
fusion of glossopharyngeal and vagus nerve
abnormal oculomotor nerve morphology
abnormal nervous system physiology
Availability Mouse Genotype
Mafbkr/Mafbkr
Mafbtm1.2Good/Mafbtm1.2Good
Tg(Isl1-EGFP*)1Slp/0
Mafbtm1Mhs/Mafbtm1Mhs *
Mafbtm1.2Good/Mafb+
Tg(Isl1-EGFP*)1Slp/0
Mafbtm1.1Good/Mafbtm1Jeng
Foxg1tm1(cre)Skm/Foxg1+  (conditional)		 *
Gt(ROSA)26Sortm1(CAG-Mafb,-tdTomato)Good/Gt(ROSA)26Sor+
Tg(Neurog1-cre)1Jejo/0  (conditional)		 *
Mafbtm1.1Good/Mafbtm1Jeng
Tg(Neurog1-cre)1Jejo/0  (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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory