Symbol
Name
ID

Chsy1
chondroitin sulfate synthase 1
MGI:2681120

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Abnormal digit morphology

Clinodactyly of the 2nd finger

Complete duplication of the middle phalanx of the 3rd finger

Partial duplication of the proximal phalanx of the 3rd finger

Clinodactyly of the 5th finger

Complete duplication of proximal phalanx of the thumb

Duplication of thumb phalanx

Partial duplication of thumb phalanx

Proximal symphalangism of hands

Hitchhiker thumb

Radial deviation of finger

Tibial deviation of the 5th toe

Short hallux

Tibial deviation of the 2nd toe

Clinodactyly

Brachydactyly

Syndactyly

Cutaneous finger syndactyly

Short metatarsal

Tarsal synostosis

Short foot

Radioulnar synostosis

Proximal radio-ulnar synostosis

Short metacarpal

Short palm

Carpal synostosis

Disease(s) Associated with CHSY1

temtamy preaxial brachydactyly syndrome

Mouse Phenotypes		brachypodia	abnormal carpal bone morphology	abnormal phalanx morphology	short femur	short tibia	abnormal limb bone morphology	abnormal metacarpal bone morphology	abnormal metatarsal bone morphology	short limbs	kinked tail
Availability	Mouse Genotype	brachypodia	abnormal carpal bone morphology	abnormal phalanx morphology	short femur	short tibia	abnormal limb bone morphology	abnormal metacarpal bone morphology	abnormal metatarsal bone morphology	short limbs	kinked tail
	Chsy1^em1Btlr/Chsy1^em1Btlr
	Chsy1^m1Btlr/Chsy1^m1Btlr
	Chsy1^skt/Chsy1^skt
	Chsy1^skt/Chsy1^skt Pde6b⁺/Pde6b⁺
	Chsy1^tm1Lex/Chsy1^tm1Lex
	Chsy1^skt/Chsy1^tm1Lex

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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