Phenotypes associated with this allele

• Allele Symbol: Jag1^Mhdahtu
• Allele Name: Martin Hrabe de Angelis headturner
• Allele ID: MGI:2386949
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jag1^Mhdahtu/Jag1^Mhdahtu	C3HeB/FeJ-Jag1^Mhdahtu	MGI:3717463
ht2	Jag1^Mhdahtu/Jag1^+	C3HeB/FeJ-Jag1^Mhdahtu	MGI:3717461
ht3	Jag1^Mhdahtu/Jag1^Slalom	involves: BALB/c * C3H * C3HeB/FeJ	MGI:3717465
cx4	Jag1^Mhdahtu/Jag1^+ Six1^Cwe/Six1^+	C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe	MGI:3849174

Genotype
MGI:3717463

hm1

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

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

Jag1^Mhdahtu/Jag1^Mhdahtu mice die because of defects in vascular remodeling

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:72108 )

• die around E11.5

growth/size/body

embryonic growth retardation ( J:72108 )

• almost all E11.5 embryos appear to be delayed in development by a day or half a day

embryo

abnormal vitelline vasculature morphology ( J:72108 )

• absence or great reduction in the number of large blood vessels in the yolk sacs

embryonic growth retardation ( J:72108 )

• almost all E11.5 embryos appear to be delayed in development by a day or half a day

kinked neural tube ( J:72108 )

• some embryos exhibit a kinky neural tube

cardiovascular system

abnormal blood vessel morphology ( J:72108 )

• less branching of vessels in the head region

abnormal vitelline vasculature morphology ( J:72108 )

• absence or great reduction in the number of large blood vessels in the yolk sacs

enlarged pericardium ( J:72108 )

• some embryos exhibit an expanded pericardium

hemorrhage ( J:72108 )

• hemorrhage

nervous system

kinked neural tube ( J:72108 )

• some embryos exhibit a kinky neural tube

Genotype
MGI:3717461

ht2

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

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

Genotype
MGI:3717465

ht3

• Allelic Composition: Jag1^Mhdahtu/Jag1^Slalom
• Genetic Background: involves: BALB/c * C3H * C3HeB/FeJ

mortality/aging

embryonic lethality during organogenesis ( J:72108 )

embryo

abnormal vitelline vasculature morphology ( J:72108 )

• absence of blood vessels in the yolk sac

embryo tissue necrosis ( J:72108 )

• embryos are either necrotic or hemorrhagic

cardiovascular system

abnormal vitelline vasculature morphology ( J:72108 )

• absence of blood vessels in the yolk sac

hemorrhage ( J:72108 )

• embryos are either necrotic or hemorrhagic

cellular

embryo tissue necrosis ( J:72108 )

• embryos are either necrotic or hemorrhagic

Genotype
MGI:3849174

cx4

• Allelic Composition: Jag1^Mhdahtu/Jag1⁺; Six1^Cwe/Six1⁺
• Genetic Background: C3HeB/FeJ-C3HeB/FeJ-Jag1^Htu Six1^Cwe

hearing/vestibular/ear

abnormal inner ear canal morphology ( J:149467 )

• anterior and posterior canals are truncated compared to in wild-type mice

• however, lateral canals are normal

abnormal posterior semicircular canal morphology ( J:149467 )

• truncated

abnormal crista ampullaris morphology ( J:149467 )

• mice lack cristae unlike wild-type mice

abnormal superior semicircular canal morphology ( J:149467 )

• truncated

behavior/neurological

head bobbing ( J:149467 )

circling ( J:149467 )