C3HeB/FeJ-Jag1^Mhdahtu/IegWtsiCnbc

Status	Available to order
EMMA ID	EM:04920
Citation information	RRID:IMSR_EM:04920 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3HeB/FeJ-Jag1^Mhdahtu/IegWtsiCnbc
Alternative name	Headturner, Jag1
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Jag1^Mhdahtu
Gene/Transgene symbol	Jag1

Information from provider

Provider	Karen Steel
Provider affiliation	Wellcome Trust Sanger Institute
Additional owner	Prof. M. Hrabé de Angelis, Helmholtz Zentrum München, Neuherberg, Germany
Genetic information	ENU-induced mutation of Jag1. Strains EM:00199 and EM:04920 carry the same mutant allele. Strain EM:00199 has been backcrossed around 5 times to C3HeB/FeJ. Strain EM:04920 has possibly been further backcrossed 1/2 times to C3HeB/FeJ.
Phenotypic information	Heterozygotes show head bobbing and homozygotes die in mid-gestation.
Breeding history	Originated from ENU mutagenesis programme in Munich, Helmholtz Centrum, on a C3HeB/FeJ background and bred on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since.
References	The Notch ligand Jagged1 is required for inner ear sensory development.;Kiernan A E, Ahituv N, Fuchs H, Balling R, Avraham K B, Steel K P, Hrabé de Angelis M, ;2001;Proceedings of the National Academy of Sciences of the United States of America;98;3873-8; 11259677
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

MGI allele-associated human disease models

Alagille syndrome / DOID:9245

Orphanet associated rare diseases, based on orthologous gene matching

Tetralogy of Fallot / Orphanet_3303
Alagille syndrome due to a JAG1 point mutation / Orphanet_261619

MGI phenotypes (allele matching)

abnormal organ of Corti morphology / MGI
abnormal semicircular canal morphology / MGI
abnormal cochlear hair cell morphology / MGI
head shaking / MGI
abnormal crista ampullaris morphology / MGI
increased cochlear inner hair cell number / MGI
decreased cochlear outer hair cell number / MGI
head tossing / MGI
hearing/vestibular/ear phenotype / MGI
abnormal semicircular canal ampulla morphology / MGI
enlarged pericardium / MGI
abnormal blood vessel morphology / MGI
hemorrhage / MGI
abnormal vitelline vasculature morphology / MGI
kinked neural tube / MGI
embryonic growth retardation / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
embryonic lethality during organogenesis / MGI
embryo tissue necrosis / MGI

MGI phenotypes (gene matching)

abnormal organ of Corti morphology / MGI
abnormal vascular development / MGI
enlarged pericardium / MGI
distended pericardium / MGI
corneal opacity / MGI
irregularly shaped pupil / MGI
head bobbing / MGI
impaired balance / MGI
abnormal blood vessel morphology / MGI
pale yolk sac / MGI
hemorrhage / MGI
intracranial hemorrhage / MGI
abnormal eye morphology / MGI
abnormal neural tube morphology / MGI
no abnormal phenotype detected / MGI
abnormal semicircular canal morphology / MGI
abnormal cochlear hair cell morphology / MGI
head shaking / MGI
abnormal posterior semicircular canal morphology / MGI
no phenotypic analysis / MGI
abnormal superior semicircular canal morphology / MGI
abnormal vitelline vasculature morphology / MGI
abnormal cochlear sensory epithelium morphology / MGI
kinked neural tube / MGI
embryonic growth retardation / MGI
abnormal vitelline vascular remodeling / MGI
abnormal crista ampullaris morphology / MGI
increased cochlear inner hair cell number / MGI
decreased cochlear outer hair cell number / MGI
decreased neuronal precursor cell number / MGI
head tossing / MGI
positive geotaxis / MGI
hearing/vestibular/ear phenotype / MGI
embryonic lethality during organogenesis / MGI
abnormal placement of pupils / MGI
abnormal semicircular canal ampulla morphology / MGI
increased neuron number / MGI
abnormal neuron differentiation / MGI
iris coloboma / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
embryo tissue necrosis / MGI

Literature references

The Notch ligand Jagged1 is required for inner ear sensory development.;Kiernan A E, Ahituv N, Fuchs H, Balling R, Avraham K B, Steel K P, Hrabé de Angelis M, ;2001;Proceedings of the National Academy of Sciences of the United States of America;98;3873-8; 11259677

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Availabilities

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Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Jag1Mhdahtu/IegWtsiCnbc