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Phenotypes Associated with This Genotype
Genotype
MGI:3717461
Allelic
Composition
Jag1Mhdahtu/Jag1+
Genetic
Background
C3HeB/FeJ-Jag1Mhdahtu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jag1Mhdahtu mutation (2 available); any Jag1 mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Inner ear of Jag1Mhdahtu/Jag1+ mice at E16.5 shows missing or smaller ampullae

behavior/neurological
• mild head shaking behavior
• age of onset is approximately weaning age

hearing/vestibular/ear
N
• mutants are not deaf and have normal endocochlear potentials, but have slightly, although not significant, raised thresholds for compound action potentials
• 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%
• 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
• the number of inner hair cells is increased slightly, with occasional cells appearing in a second row toward the inner sulcus
• truncation of semicircular canals
• 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
• 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
• 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%
• 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
• 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


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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory