C3;C-Jag1^Slalom/H

Status	Available to order
EMMA ID	EM:00081
Citation information	RRID:IMSR_EM:00081 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	C3;C-Jag1^Slalom/H
Alternative name	GENA158
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Jag1^Slalom
Gene/Transgene symbol	Jag1

Information from provider

Provider	Pat Nolan
Provider affiliation	MRC Mammalian Genetics Unit
Genetic information	A C to T missense mutation causes a proline to serine change at conserved codon 269 in the second epidermal growth factor (EGF)-like repeat.
Phenotypic information	These mice exhibit head weaving and shaking behaviour.
References	A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

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)

hemorrhage / MGI
abnormal vitelline vasculature morphology / MGI
embryonic lethality during organogenesis / MGI
embryo tissue necrosis / MGI
abnormal semicircular canal morphology / MGI
head shaking / MGI
abnormal cochlear sensory epithelium morphology / MGI
increased cochlear inner hair cell number / MGI
decreased cochlear outer hair cell number / MGI
positive geotaxis / MGI
abnormal semicircular canal ampulla morphology / MGI
abnormal neural tube morphology / MGI
embryonic lethality during organogenesis, complete penetrance / 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

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191

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Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
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C3;C-Jag1Slalom/H