Phenotypes associated with this allele

• Allele Symbol: Mafb^tm1.2Good
• Allele Name: targeted mutation 1.2, Lisa Goodrich
• Allele ID: MGI:5581668
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mafb^tm1.2Good/Mafb^tm1.2Good	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5581685
cx2	Mafb^tm1.2Good/Mafb^tm1.2Good Tg(Isl1-EGFP*)1Slp/0	involves: 129S4/SvJae * BALB/c * C57BL/6	MGI:6278261
cx3	Mafb^tm1.2Good/Mafb^+ Tg(Isl1-EGFP*)1Slp/0	involves: 129S4/SvJae * BALB/c * C57BL/6	MGI:6278262

Genotype
MGI:5581685

hm1

• Allelic Composition: Mafb^tm1.2Good/Mafb^tm1.2Good
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

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

mortality/aging

neonatal lethality, complete penetrance ( J:207904 )

• mice die within 2 hours of birth

respiratory system

respiratory distress ( J:207904 )

• occasional gasping breaths in neonates

hearing/vestibular/ear

inner ear cyst ( J:207904 )

homeostasis/metabolism

cyanosis ( J:207904 )

• at birth

renal/urinary system

abnormal kidney development ( J:207904 )

• renal dysgenesis

growth/size/body

inner ear cyst ( J:207904 )

Genotype
MGI:6278261

cx2

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

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

Genotype
MGI:6278262

cx3

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

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