Phenotypes for Cep290 MGI:5442145 MGI Mouse

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Phenotypes Associated with This Genotype

Allelic Composition	Cep290^b2b1752Clo/Cep290^b2b1752Clo
Genetic Background	C57BL/6J-Cep290^b2b1752Clo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290^b2b1752Clo mutation (1 available); any Cep290 mutation (124 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Mutant 1752-002-LA displays heterotaxy indicated by mesocardia, left lung isomerism and dextrogastria

cardiovascular system

d-loop transposition of the great arteries ( J:175213 )

atrial septal defect ( J:175213 )

atrioventricular septal defect ( J:175213 )

ventricular septal defect ( J:175213 )

growth/size/body

heterotaxia ( J:175213 )

hematopoietic system

spleen hypoplasia ( J:175213 )

immune system

spleen hypoplasia ( J:175213 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy		DOID:0050545	OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955	J:175213

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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