Phenotypes associated with this allele

• Allele Symbol: Jag1^tm1Jlew
• Allele Name: targeted mutation 1, Julian Lewis
• Allele ID: MGI:3623344
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Jag1^tm1Jlew/Jag1^tm1Jlew	involves: C57BL/6J	MGI:3624332
cn2	Jag1^tm1Jlew/Jag1^tm1Jlew Tg(Tie1-cre)9Ref/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4437854
cn3	Jag1^tm1Jlew/Jag1^tm1Grid Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:4437857
cn4	Jag1^tm1Jlew/Jag1^tm1Jlew Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0	involves: C57BL/6 * CBA	MGI:4437856

Genotype
MGI:3624332

cn1

• Allelic Composition: Jag1^tm1Jlew/Jag1^tm1Jlew
• Genetic Background: involves: C57BL/6J

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

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:107414 )

• at E17.5, the middle part of the cochlea has two disorganized rows of hair cells instead of the normal stereotyped pattern of 3 rows of outer hair cells and 1 row of inner hair cells: towards base of the cochlea, the number of hair cells is severely reduced and instead of a continuous band of two rows, the rows are broken up and irregular islands of hair cells are present

• in mutants, the number of hair cells per 100 microns of cochlea length is reduced to 25.8 as compared to 63.5 in wild-type controls

absent cochlear outer hair cells ( J:107414 )

• in conditional Jag1 knockouts, outer hair cells are missing completely

increased cochlear inner hair cell number ( J:107414 )

• number of inner hair cells is almost doubled from 15.3 per 100 microns cochlea length to 25.8

absent vestibular hair cells ( J:107414 )

• epithelium where the horizontal crista and utricular macula would be lacks hair cells

abnormal semicircular canal morphology ( J:107414 )

• in Jag1 mutants, all three semicircular canals are truncated

abnormal utricular macula morphology ( J:107414 )

• epithelium where the utricular macula would be is thickened

nervous system

abnormal cochlear hair cell morphology ( J:107414 )

• at E17.5, the middle part of the cochlea has two disorganized rows of hair cells instead of the normal stereotyped pattern of 3 rows of outer hair cells and 1 row of inner hair cells: towards base of the cochlea, the number of hair cells is severely reduced and instead of a continuous band of two rows, the rows are broken up and irregular islands of hair cells are present

• in mutants, the number of hair cells per 100 microns of cochlea length is reduced to 25.8 as compared to 63.5 in wild-type controls

absent cochlear outer hair cells ( J:107414 )

• in conditional Jag1 knockouts, outer hair cells are missing completely

increased cochlear inner hair cell number ( J:107414 )

• number of inner hair cells is almost doubled from 15.3 per 100 microns cochlea length to 25.8

absent vestibular hair cells ( J:107414 )

• epithelium where the horizontal crista and utricular macula would be lacks hair cells

Genotype
MGI:4437854

cn2

• Allelic Composition: Jag1^tm1Jlew/Jag1^tm1Jlew; Tg(Tie1-cre)9Ref/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

growth/size/body

fetal growth retardation ( J:157345 )

• embryos show growth retardation compared to littermate controls at E17.5

cardiovascular system

abnormal vascular branching morphogenesis ( J:157345 )

• at E17.5, skin in the head region shows decreased branching and capillary density compared to controls

Genotype
MGI:4437857

cn3

• Allelic Composition: Jag1^tm1Jlew/Jag1^tm1Grid; Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

growth/size/body

postnatal growth retardation ( J:157345 )

• with postnatal tamoxifen treatment from P1-P3, pups are generally smaller than tamoxifen-treated control littermates

vision/eye

abnormal retina vasculature morphology ( J:157345 )

• perpendicular sprouting and neovascularization of the deeper retina are strongly compromised with tamoxifen treatment between P5 and P9

cardiovascular system

cardiovascular system phenotype ( J:157345 )

N • stability of blood vessels is not affected in mutants with tamoxifen treatment at P1; stability of established vessels in the superficial capillary plexus is not affected with tamoxifen administration between P5 and P9

abnormal blood vessel morphology ( J:157345 )

• postnatal tamoxifen treatment from P1-P3 results in decreased coverage of retinal arteries by vascular smooth muscle cells; however pericyte coverage of capillary beds shows no change

abnormal retina vasculature morphology ( J:157345 )

• perpendicular sprouting and neovascularization of the deeper retina are strongly compromised with tamoxifen treatment between P5 and P9

abnormal angiogenesis ( J:157345 )

• postnatal tamoxifen treatment from P1-P3 to delete Jag1 in endothelial cells results in significant decreases in numbers of filopodia and filopodia-extending endothelial tip cells

decreased angiogenesis ( J:157345 )

• postnatal tamoxifen treatment from P1-P3 results in strong inhibition of angiogenesis in the retina resulting in reduced branching and delayed extension toward the periphery

Genotype
MGI:4437856

cn4

• Allelic Composition: Jag1^tm1Jlew/Jag1^tm1Jlew; Tg(Pdgfb-icre/ERT2,-EGFP)1Frut/0
• Genetic Background: involves: C57BL/6 * CBA

cardiovascular system

decreased angiogenesis ( J:157345 )

• postnatal tamoxifen treatment from P1-P3 results in decreased angiogenesis in the retina assessed at P6; significantly decreased vascular branching and endothelial cell coverage at P6