Notch1<tm1Con> Targeted Allele Detail MGI Mouse (MGI:1857230)

Notch1^tm1Con
Targeted Allele Detail

Nomenclature

Symbol:	Notch1^tm1Con
Name:	Notch gene homolog 1 (Drosophila); targeted mutation 1, Ronald L Conlon
MGI ID:	MGI:1857230
Synonyms:	N1^delta1, Notch^-, Notch^delta1, Notch1^-, Notch1^tm1Con/J
Gene:	Notch1 Location: Chr2:26313423-26372183 bp, - strand Genetic Position: Chr2, 15.0 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:25248
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:	Targeted (knock-out)
Mutations:	Insertion, Intragenic deletion
	Deletion of sequences encoding the EGF repeats 28 to 36, three Notch repeats, the transmembrane domain and CDC10/SWI6 repeats, and replacement with a neomycin gene. (J:25248)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Notch1 Mutation:	24 strains or lines available

Expression

In Mice Carrying this Mutation:

58 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	cn3
cardiovascular system		√	√	√
distended pericardium		√
abnormal cardiac muscle morphology			√
poorly developed ventricular trabeculae			√
disorganized myocardium			√
abnormal vascular development				√
internal hemorrhage				√
		hm1	hm2	cn3
cellular		√
abnormal cell death		√
		hm1	hm2	cn3
embryogenesis		√
abnormal rostral-caudal axis patterning		√
decreased embryo size		√
kinked neural tube		√
notochord degeneration		√
abnormal somite development		√
abnormal left-right axis symmetry of the somites		√
abnormal somite size		√
delayed somite formation		√
embryonic growth arrest		√
		hm1	hm2	cn3
growth/size		√
decreased embryo size		√
		hm1	hm2	cn3
lethality/prenatal-perinatal		√		√
embryonic lethality during organogenesis		√		√
		hm1	hm2	cn3
muscle			√
abnormal cardiac muscle morphology			√
poorly developed ventricular trabeculae			√
disorganized myocardium			√
		hm1	hm2	cn3
nervous system		√
kinked neural tube		√
		hm1	hm2	cn3
renal/urinary system				N
renal/urinary system phenotype				N

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Notch1^tm1Con/Notch1^tm1Con	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:25248) most mutants are dead at E10 and all die by E11 embryogenesis abnormal rostral-caudal axis patterning (J:25248) show a deficit in posterior development at E9 decreased embryo size (J:25248) embryos are smaller at E9 kinked neural tube (J:62882) neural tube kinks are seen extending posterior to the forelimb notochord degeneration (J:25248) the notochord degenerates after growth arrest abnormal somite development (J:62882, J:25248) mutants exhibit a lack of coordination in segmentation of the somites, leading to variable somite size and misalignment of the somites across the midline of the embryo (J:25248) transition from presomitic mesoderm to the somite is disordered (J:25248) the most recently formed somites are not as tightly packed as those of wild-type and the epithelialization sometimes appears incomplete (J:25248) abnormal left-right axis symmetry of the somites (J:25248) lack of coordination across the midline in the segmentation of somites, where segmentation is sometimes present on one side but not the other abnormal somite size (J:25248) variable somite size delayed somite formation (J:25248) mutants exhibit a delay in segmentation of the somites embryonic growth arrest (J:62882, J:25248) growth arrest at the 14 somite stage (J:25248) growth/size decreased embryo size (J:25248) embryos are smaller at E9 cardiovascular system distended pericardium (J:62882, J:25248) distended pericardia at E9 (J:25248) cellular abnormal cell death (J:25248) an increase in cell death is seen in embryos after they arrest nervous system kinked neural tube (J:62882) neural tube kinks are seen extending posterior to the forelimb
Genotype	Allelic Composition	Genetic Background
hm2	Notch1^tm1Con/Notch1^tm1Con	involves: 129S1/Sv * 129X1/SvJ
cardiovascular system abnormal cardiac muscle morphology (J:119151) the endocardium does not surround the myocardium, which shows irregular thickness poorly developed ventricular trabeculae (J:119151) disorganized myocardium (J:119151) less-structured myocardium muscle abnormal cardiac muscle morphology (J:119151) the endocardium does not surround the myocardium, which shows irregular thickness poorly developed ventricular trabeculae (J:119151) disorganized myocardium (J:119151) less-structured myocardium
Genotype	Allelic Composition	Genetic Background
cn3	Notch1^tm1Con/Notch1^tm1Grid Tg(Pax2-cre)1Akg/0	involves: 129S1/Sv * 129X1/SvJ
lethality/prenatal-perinatal embryonic lethality during organogenesis (J:119907) embryos are normal at E12.5, but die at E13.5 renal/urinary system renal/urinary system phenotype (J:119907) metanephroi appear normal morphologically and histologically when cultured at E12.5 cardiovascular system abnormal vascular development (J:119907) internal hemorrhage (J:119907)

References

Original:	J:25248 Conlon RA et al., "Notch1 is required for the coordinate segmentation of somites." Development 1995 May;121(5):1533-45
All:	21 reference(s)

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