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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pds5b+
wild type
MGI:3047993
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5b+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3847294


Genotype
MGI:3847294
cx1
Allelic
Composition
Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg
Pds5btm1Jmi/Pds5b+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pds5aGt(RRM243)Byg mutation (0 available); any Pds5a mutation (79 available)
Pds5btm1Jmi mutation (0 available); any Pds5b mutation (100 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg, Pds5aGt(RRM243)Byg/Pds5aGt(RRM243)Byg Pds5btm1Jmi/Pds5b+ and Pds5aGt(RRM243)Byg/Pds5a+ Pds5btm1Jmi/Pds5btm1Jmi mice manifest cardiac abnormalities similar to those observed in Cornelia de Lange syndrome

mortality/aging

cardiovascular system
• the compact ventricular myocardium is thin unlike in wild-type mice
• failed to separate aortic and pulmonic valve leaflets and the aorticopulmonary septum is absent unlike in wild-type mice
• endocardial cushions fail to develop separate aortic and pulmonic valve leaflets
• mice develop a common atrioventricular canal unlike in wild-type mice

nervous system
• mice exhibit peripheral nervous system defects
• at E12.5, enteric nervous system precursors fail to migrate much beyond the ileocecal junction unlike in wild-type mice and more severely than in Pds5aGt(RRM243)Byg homozygotes

vision/eye
• agenesis and sometimes lens hypoplasia are observed at E11.5 and E12.5
• at E10.5, reduced contact between the lens placode and the optic vesicle is observed compared to in wild-type mice
• the peripheral sections of the lens placode are thinner than normal and have fewer cells than in wild-type mice

growth/size/body

embryo

muscle
• the compact ventricular myocardium is thin unlike in wild-type mice





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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
03/18/2025
MGI 6.24
The Jackson Laboratory