Symbol
Name
ID

Twist1
twist basic helix-loop-helix transcription factor 1
MGI:98872

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Genu valgum

Partial duplication of the distal phalanx of the 2nd finger

Partial duplication of the distal phalanx of the 3rd finger

Clinodactyly of the 5th finger

Postaxial hand polydactyly

Short distal phalanx of finger

Shortening of all distal phalanges of the fingers

Broad distal phalanx of the thumb

Cone-shaped epiphyses of the phalanges of the hand

Shortening of all middle phalanges of the fingers

Broad thumb

Preaxial hand polydactyly

Triphalangeal thumb

Long fingers

Arachnodactyly

Duplication of the distal phalanx of the hallux

Broad hallux

Broad distal hallux

Hallux valgus

Cone-shaped epiphyses of the toes

Toe syndactyly

2-5 toe syndactyly

Brachydactyly

Syndactyly

Cutaneous syndactyly

Cutaneous finger syndactyly

2-5 finger cutaneous syndactyly

Finger syndactyly

2-4 finger syndactyly

Absent first metatarsal

Metatarsus adductus

Metaphyseal widening

Dislocated radial head

Humeroradial synostosis

Radioulnar synostosis

Proximal radio-ulnar synostosis

Pes planus

Talipes equinovarus

Bilateral talipes equinovarus

Genu recurvatum

Carpal bone malsegmentation

Synostosis of carpal bones

Single transverse palmar crease

Bilateral single transverse palmar creases

Joint contracture of the hand

Limited elbow movement

Rhizomelic arm shortening

Disease(s) Associated with TWIST1

acrocephalosyndactylia

craniosynostosis

Saethre-Chotzen syndrome

Sweeney-Cox syndrome

Mouse Phenotypes		abnormal limb morphology	abnormal autopod morphology	abnormal digit morphology	polydactyly	abnormal forelimb morphology	abnormal limb bone morphology	short limbs
Availability	Mouse Genotype	abnormal limb morphology	abnormal autopod morphology	abnormal digit morphology	polydactyly	abnormal forelimb morphology	abnormal limb bone morphology	short limbs
	Twist1^Ska10/Twist1^Ska10
	Twist1^tm1Bhr/Twist1^tm1Bhr
	Twist1^{em1(IMPC)Rbrc}/Twist1⁺
	Twist1^Pas/Twist1⁺
	Twist1^Pde/Twist1⁺
	Twist1^Ska10/Twist1⁺
	Twist1^tm1Bhr/Twist1⁺
	Twist1^tm1Bhr/Twist1^tm2.1Bhr
	Twist1^tm1Bhr/Twist1^tm2Bhr
	Tg(CAG-cat,-Twist1)1Dbsp/0 Tg(Col2a1-cre)1Bhr/0 (conditional)

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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