Phenotypes Associated with This Genotype

Genotype
MGI:6278262

• Allelic Composition: Mafb^tm1.2Good/Mafb⁺; 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 innervation pattern to muscle ( J:237642 )

• by E12.5, aberrant branches of the oculomotor nerve begin to form in the direction of the lateral rectus muscle and 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 abducens nerve remains hypoplastic but provides some innervation to the lateral rectus muscle

• 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

abnormal abducens nerve morphology ( J:237642 )

• E11.5 embryos show hypoplastic abducens nerves

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