Phenotypes Associated with This Genotype

Genotype
MGI:6278261

• Allelic Composition: Mafb^tm1.2Good/Mafb^tm1.2Good; Tg(Isl1-EGFP*)1Slp/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal hindbrain morphology ( J:237642 )

• E11.5 embryos show severe malformations of the hindbrain, with loss of rhombomeres 5 and 6

abnormal innervation pattern to muscle ( J:237642 )

• embryos show aberrant extraocular muscle innervation

• by E12.5, an aberrant branch of the oculomotor nerve forms and contacts the developing lateral rectus muscle along the normal abducens nerve trajectory and other aberrant branches develop and contact the retractor bulbi muscle

• at E13.5, the oculomotor nerve forms a second, more distal aberrant branch that extends toward the lateral rectus muscle in addition to the more proximal aberrant branches contacting the lateral rectus and retractor bulbi muscles

• by E16.5, the lateral rectus muscle receives innervation form the distinct proximal and distal aberrant oculomotor nerve branches

• the diameter of the distal aberrant branch of the oculomotor nerve is greater than that of the proximal aberrant branch

absent abducens nerve ( J:237642 )

• abducens nerves are missing in E11.5 embryos

fusion of glossopharyngeal and vagus nerve ( J:237642 )

• E11.5 embryos show fusion of the glossopharyngeal and vagus nerves

abnormal oculomotor nerve morphology ( J:237642 )

• oculomotor nerve forms aberrant branches that contact the retractor bulbi and lateral rectus muscles at E12.5 to E16.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Duane retraction syndrome		DOID:12557	OMIM:126800 OMIM:604356	J:237642