Symbol
Name
ID

Gja1
gap junction protein, alpha 1
MGI:95713

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Abnormal diaphysis morphology

Fifth finger distal phalanx clinodactyly

Absent middle phalanx of 5th finger

Short middle phalanx of the 5th finger

Short 5th finger

Clinodactyly of the 5th finger

Joint contracture of the 5th finger

Aplasia/Hypoplasia of the middle phalanges of the hand

Camptodactyly of finger

Hand polydactyly

Preaxial hand polydactyly

Patchy sclerosis of finger phalanx

Flexion contracture of finger

Tapered finger

Short hallux

Short toe

Toe syndactyly

3-4 toe syndactyly

2-4 toe cutaneous syndactyly

Clinodactyly

Brachydactyly

3-4 finger cutaneous syndactyly

Finger syndactyly

3-4 finger syndactyly

4-5 finger syndactyly

Club-shaped distal femur

Short foot

Abnormal metaphysis morphology

Metaphyseal dysplasia

Flared metaphysis

Small hand

Plantar hyperkeratosis

Palmoplantar keratoderma

Patchy palmoplantar hyperkeratosis

Hip dislocation

Cubitus valgus

Madelung deformity

Disease(s) Associated with GJA1

autosomal recessive craniometaphyseal dysplasia

erythrokeratodermia variabilis

erythrokeratodermia variabilis et progressiva 3

oculodentodigital dysplasia

palmoplantar keratoderma and congenital alopecia 1

syndactyly type 3

Mouse Phenotypes		abnormal digit morphology	abnormal phalanx morphology	syndactyly
Availability	Mouse Genotype	abnormal digit morphology	abnormal phalanx morphology	syndactyly
	Gja1^M1Jrt/Gja1⁺
	Gja1^tm3Gfi/Gja1⁺
	Gja1^tm8Kwi/Gja1⁺ Tg(Pgk1-cre)1Lni/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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