Phenotypes Associated with This Genotype

Genotype
MGI:3717461

• Allelic Composition: Jag1^Mhdahtu/Jag1⁺
• Genetic Background: C3HeB/FeJ-Jag1^Mhdahtu

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

Inner ear of Jag1^Mhdahtu/Jag1⁺ mice at E16.5 shows missing or smaller ampullae

behavior/neurological

head shaking ( J:72108 )

• mild head shaking behavior

head tossing ( J:86685 )

• age of onset is approximately weaning age

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:72108 )

N • mutants are not deaf and have normal endocochlear potentials, but have slightly, although not significant, raised thresholds for compound action potentials

abnormal organ of Corti morphology ( J:72108 )

abnormal cochlear hair cell morphology ( J:72108 )

• display atypical hair cells that exhibit the bundle morphology of outer hair cells but reside in the inner hair cell row, resulting in an overall increases in the number of inner hair cells by 17%

decreased cochlear outer hair cell number ( J:72108 )

• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row

increased cochlear inner hair cell number ( J:72108 )

• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus

abnormal semicircular canal morphology ( J:72108 )

• truncation of semicircular canals

abnormal semicircular canal ampulla morphology ( J:72108 )

• posterior and sometimes anterior ampullae are missing; most mice have both ampullae missing

• when present, the anterior ampulla is small

• in the few cases where the posterior ampulla is present, it is very small

abnormal crista ampullaris morphology ( J:72108 , J:149467 )

• anterior crista at P3 is small, flat and missing eminentia cruciata (J:72108)

• mice lack anterior cristae and sometime posterior cristae unlike in wild-type mice (J:149467)

nervous system

abnormal cochlear hair cell morphology ( J:72108 )

• display atypical hair cells that exhibit the bundle morphology of outer hair cells but reside in the inner hair cell row, resulting in an overall increases in the number of inner hair cells by 17%

decreased cochlear outer hair cell number ( J:72108 )

• 33% reduction in the numbers of outer hair cells; instead of the normal 3 rows of outer hair cells there are only 2 rows and in some regions, only one row

increased cochlear inner hair cell number ( J:72108 )

• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:72108