All Phenotypes Cep290<b2b1752Clo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Cep290^b2b1752Clo
Bench to Bassinet Program (B2B/CVDC), mutation 1752 Cecilia Lo
MGI:5438068

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cep290^b2b1752Clo/Cep290^b2b1752Clo	C57BL/6J-Cep290^b2b1752Clo	MGI:5442145

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 (126 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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