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Symbol
Name
ID

Tbx5
T-box 5
MGI:102541

Phenotype annotations related to limbs/digits/tail

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Broad thumb

Partial duplication of thumb phalanx

Triphalangeal thumb

Absent thumb

Finger clinodactyly

Short digit

Syndactyly

Finger syndactyly

Aplasia/Hypoplasia of the radius

Absent radius

Hypoplasia of the radius

Radioulnar synostosis

Aplasia of the ulna

Hypoplasia of the ulna

Abnormal metacarpal morphology

Abnormality of the humerus

Short humerus

Split hand

Small thenar eminence

Aplasia of the pectoralis major muscle

Abnormal carpal morphology

Limited elbow extension

Phocomelia

Disease(s) Associated with TBX5

Holt-Oram syndrome

Mouse Phenotypes		limbs/digits/tail phenotype	absent apical ectodermal ridge	abnormal forelimb bud morphology	absent forelimb buds	abnormal carpal bone morphology	abnormal digit morphology	abnormal phalanx morphology	abnormal forelimb morphology	absent forelimb	abnormal limb development
Availability	Mouse Genotype	limbs/digits/tail phenotype	absent apical ectodermal ridge	abnormal forelimb bud morphology	absent forelimb buds	abnormal carpal bone morphology	abnormal digit morphology	abnormal phalanx morphology	abnormal forelimb morphology	absent forelimb	abnormal limb development
	Tbx5^tm1.1Jse/Tbx5⁺
	Tbx5^tm1Jse/Tbx5^tm1Jse Tg(Prrx1-cre)1Cjt/0 (conditional)
	Tbx5^tm1Jse/Tbx5^tm1Jse Tg(Prrx1-cre/ERT2)1Mlgn/0 (conditional)
	Tbx5^tm1Jse/Tbx5^tm1Jse Tg(Prrx1-cre/ERT2)1Mlgn/0 Tg(Scx-GFP)1Stzr/0 (conditional)
	Pax3^tm1(cre)Joe/Pax3⁺ Tbx5^tm1Jse/Tbx5^tm1Jse (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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