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Phenotype Image Detail
Image
Caption Six1tm1Mair/Six1tm1Mair Eya1tm1Rilm/Eya1tm1Rilm mutants phenocopy features of human del22q11 syndromes. (A-F) Gross morphological defects of the outflow tract (OFT) and great arteries of newborn mutants (B-F) versus wild-type (WT) control (A). (G-J) H&E histological staining of sectioned hearts revealed ventricular septal defect (VSD) and dysmorphology of the outflow valves in a Six1tm1Mair/Six1tm1Mair Eya1tm1Rilm/Eya1tm1Rilm mutant (I and J) compared with Six1tm1Mair/Six1+ Eya1tm1Rilm/Eya1+control (G and H). Ao, aortic artery; BCA, brachiocephalic artery; dA, descending aorta; DLCC, duplicated left common carotid artery; LCC, left common carotid artery; LSC, left subclavian artery; p, pulmonary artery; RCC, right common carotid artery; RRSA, retroesophageal right subclavian artery; RSC, right subclavian artery; V, ventricle; VR, vascular ring. Asterisks denote interrupted aortic arches. Original magnification, 50 (G and I); 80 (H and J).
Copyright This image is from Guo C, J Clin Invest 2011 Apr 1;121(4):1585-95 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:172023
Associated
Alleles
Symbol Name
Eya1tm1Rilm EYA transcriptional coactivator and phosphatase 1; targeted mutation 1, Richard Maas
Six1tm1Mair sine oculis-related homeobox 1; targeted mutation 1, Pascal Maire
Associated
Genotypes
Allelic Composition Genetic Background
Eya1tm1Rilm/Eya1tm1Rilm involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1tm1Mair
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1tm1Mair
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Six1tm1Mair/Six1tm1Mair involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory