Phenotypes associated with this allele

• Allele Symbol: Notch1^tm2Agt
• Allele Name: targeted mutation 2, Michael Aguet
• Allele ID: MGI:3043290
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Notch1^tm2Agt/Notch1^tm2Agt	involves: 129	MGI:3043292
hm2	Notch1^tm2Agt/Notch1^tm2Agt	involves: 129/Sv * C57BL/6	MGI:3043291
cx3	Jag1^tm1.1Vtlr/Jag1^+ Notch1^tm2Agt/Notch1^+	involves: 129	MGI:3618372
cx4	Lrrn1^em1Dri/Lrrn1^em1Dri Notch1^tm2Agt/Notch1^+	involves: 129/Sv * C57BL/6J * CD-1	MGI:7593860

Genotype
MGI:3043292

hm1

• Allelic Composition: Notch1^tm2Agt/Notch1^tm2Agt
• Genetic Background: involves: 129

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

cardiovascular system

abnormal artery morphology ( J:89444 )

• at E9.5 reduction in expression of arterial specific markers suggests impaired arterial cell fate specification in homozygotes

abnormal cardiac epithelial to mesenchymal transition ( J:133699 )

• atrioventricular canal explants from E9.5 embryos have a severe reduction in the number of outgrowing cells and the number fully transformed, elongated mesenchymal cells indicating impaired epithelial to mesenchymal transition

Genotype
MGI:3043291

hm2

• Allelic Composition: Notch1^tm2Agt/Notch1^tm2Agt
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:55400 )

• all homozygotes die around E9.5

Genotype
MGI:3618372

cx3

• Allelic Composition: Jag1^tm1.1Vtlr/Jag1⁺; Notch1^tm2Agt/Notch1⁺
• Genetic Background: involves: 129

mortality/aging

postnatal lethality, complete penetrance ( J:103728 )

• most double heterozygotes die a few hours after birth; only 10% survive up to 8 days

nervous system

abnormal rostral migratory stream morphology ( J:103728 )

• at P4, there is a significant reduction in the number of mitotic cells in the rostral migratory stream of brains from mutants at P4

abnormal postnatal subventricular zone morphology ( J:103728 )

• at P4, there is a significant reduction in the number of dividing cells in the subventricular zone of brains from double heterozygotes

• at P8, the subventricular zone is noticeably thinner, with reduced cellularity and a 60% reduction in the number of proliferating cells compared to wild-type

Genotype
MGI:7593860

cx4

• Allelic Composition: Lrrn1^em1Dri/Lrrn1^em1Dri; Notch1^tm2Agt/Notch1⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CD-1

hearing/vestibular/ear

abnormal cochlear inner hair cell morphology ( J:344891 )

• smaller IHC surface area

increased cochlear inner hair cell number ( J:344891 )

• number of IHC doublets is increased compared to wild-type controls and mice homozygous for Lrrn1^em1Dri and wild-type for Notch1

• increase in the number of aligned IHCs

• however, the length of the cochlea is similar to wild-type controls

nervous system

abnormal cochlear inner hair cell morphology ( J:344891 )

• smaller IHC surface area

increased cochlear inner hair cell number ( J:344891 )

• number of IHC doublets is increased compared to wild-type controls and mice homozygous for Lrrn1^em1Dri and wild-type for Notch1

• increase in the number of aligned IHCs

• however, the length of the cochlea is similar to wild-type controls