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Symbol
Name
ID 		Gja1
gap junction protein, alpha 1
MGI:95713
Phenotype annotations related to reproductive system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Maternal diabetes
Abnormal testis morphology
Disease(s) Associated with GJA1
erythrokeratodermia variabilis
hypoplastic left heart syndrome

Mouse Phenotypes
reproductive system phenotype
azoospermia
decreased spermatid number
abnormal spermatocyte morphology
decreased spermatogonia number
decreased male germ cell number
decreased germ cell number
increased granulosa cell apoptosis
decreased granulosa cell proliferation
abnormal mammary gland growth during pregnancy
abnormal ovary morphology
absent corpus luteum
abnormal ovarian follicle morphology
abnormal granulosa cell morphology
decreased mature ovarian follicle number
absent mature ovarian follicles
abnormal ovarian follicle number
impaired ovarian folliculogenesis
small ovary
ovary cyst
abnormal Sertoli cell morphology
increased Sertoli cell number
small seminiferous tubules
increased Leydig cell number
decreased testis weight
small testis
abnormal spermatogenesis
arrest of spermatogenesis
decreased superovulation rate
impaired luteinization
female infertility
reduced female fertility
decreased litter size
male infertility
Availability Mouse Genotype
Gja1tm1Kdr/Gja1tm1Kdr
Gja1tm4Kwi/Gja1tm4Kwi
Gja1tm7(Gja2)Kwi/Gja1tm7(Gja2)Kwi
Gja1M1Jrt/Gja1+
Gja1tm7(Gja2)Kwi/Gja1+
Gja1tm1Kwi/Gja1tm1Kwi
Plekha5Tg(AMH-cre)1Flor/Plekha5+  (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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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory