|
Symbol Name ID |
Pex5
peroxisomal biogenesis factor 5 MGI:1098808 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Dolichocephaly |
Turricephaly |
Micrognathia |
Microcephaly |
Large fontanelles |
Swan neck-like deformities of the fingers |
Irregular capital femoral epiphysis |
Coxa vara |
Short femoral neck |
Metatarsus adductus |
Metaphyseal cupping |
Metaphyseal irregularity |
Short humerus |
Joint contracture of the hand |
Cubitus valgus |
Contractures of the large joints |
Camptodactyly |
Narrow iliac wing |
Thoracic scoliosis |
Stippled chondral calcification |
| Disease(s) Associated with PEX5 | |||||||||||||||||||||
| peroxisome biogenesis disorder 2A | |||||||||||||||||||||
| peroxisome biogenesis disorder 2B | |||||||||||||||||||||
| rhizomelic chondrodysplasia punctata type 5 |
| Mouse Phenotypes | kyphosis |
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| Availability | Mouse Genotype | |
| Pex5tm1Pec/Pex5tm1Pec Cnptm1(cre)Kan/Cnp+ (conditional) |
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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 04/16/2024 MGI 6.23 |
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