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XB-GENEPAGE-1013166
dse dermatan sulfate epimerase
Anatomical Phenotypes
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abnormal molecular function (2 sources), absent dorsal fin (2 sources), abnormal bending of tail (1 source), abnormal cell migration (1 source), abnormal migratory neural crest cell (1 source), abnormally decreased mass of chondrocranium (1 source), abnormally decreased number of melanophore (1 source), abnormally decreased volume of chondrocranium (1 source), decreased length of tail (1 source), decreased size of the branchial arch skeleton (1 source), decreased size of the chondrocranium (1 source), decreased size of the eye (1 source), decreased size of the head (1 source), decreased size of the hyoid arch skeleton (1 source), decreased size of the mandibular arch (1 source), decreased size of the notochord (1 source) |
Expression Phenotypes
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Manual annotations: dse manipulated (5 sources) |
Computed annotations: dse assayed (5 sources) |
Diseases
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Ehlers-Danlos syndrome (6AP sources, 5 EP sources) |
Experiments (Reagents)
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Xla Wt + dse MO (10 sources) |
Monarch Ortholog Phenotypes
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Human (26 sources): Adducted thumb, Arachnodactyly, Arthralgia, Blue sclerae, Brachycephaly, Camptodactyly, Cerebral atrophy, Delayed gross motor development, Dental crowding, Downslanted palpebral fissures, [+] |
Mouse (9 sources): abnormal cutaneous collagen fibril morphology, abnormal eosinophil cell number, abnormal hypodermis morphology, decreased birth body size, decreased body length, decreased litter size, decreased skin tensile strength, kinked tail, preweaning lethality, complete penetrance |
View all ortholog results at Monarch |