- 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
C3;C-Jag1Slalom/H
Status | Available to order |
EMMA ID | EM:00081 |
International strain name | C3;C-Jag1Slalom/H |
Alternative name | GENA158 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Jag1Slalom, |
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 |
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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)
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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