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Symbol
Name
ID

Xylt1
xylosyltransferase 1
MGI:2451073

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Genu varum

Radial deviation of the 2nd finger

Clinodactyly of the 5th finger

Bifid distal phalanx of the thumb

Camptodactyly of finger

Short 1st metacarpal

Short phalanx of finger

Broad thumb

Phalangeal dislocation

Triangular shaped phalanges of the hand

Partial duplication of the distal phalanx of the hallux

Toe clinodactyly

Sandal gap

Brachydactyly

Cutaneous syndactyly

Abnormal femoral neck/head morphology

Broad femoral neck

Coxa valga

Coxa vara

Monkey wrench femoral neck

Short femoral neck

Proximal fibular overgrowth

Broad first metatarsal

Short metatarsal

Advanced tarsal ossification

Abnormal metaphysis morphology

Metaphyseal widening

Radioulnar synostosis

Short metacarpal

Small hand

Broad foot

Medial deviation of the foot

Pes planus

Talipes equinovarus

Flat acetabular roof

Hip dislocation

Patellar dislocation

Genu recurvatum

Knee dislocation

Radioulnar dislocation

Advanced ossification of carpal bones

Single transverse palmar crease

Elbow dislocation

Disease(s) Associated with XYLT1

Desbuquois dysplasia

Mouse Phenotypes		abnormal limb morphology	abnormal forelimb stylopod morphology	short humerus	abnormal forelimb zeugopod morphology	short ulna	abnormal hindlimb stylopod morphology	short femur	abnormal hindlimb zeugopod morphology	short tibia	rhizomelic limb
Availability	Mouse Genotype	abnormal limb morphology	abnormal forelimb stylopod morphology	short humerus	abnormal forelimb zeugopod morphology	short ulna	abnormal hindlimb stylopod morphology	short femur	abnormal hindlimb zeugopod morphology	short tibia	rhizomelic limb
	Xylt1^em1(IMPC)J/Xylt1^em1(IMPC)J
	Xylt1^m1Btlr/Xylt1^m1Btlr
	Xylt1^m2Btlr/Xylt1^m2Btlr
	Xylt1^npo/Xylt1^npo

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 05/07/2024 MGI 6.23