IMPC phenotypes (gene matching)
- abnormal posture / IMPC
STOCK Gt(ROSA)26Sortm1(cre/ERT)Brn Gjb2tm1Ugds/Cnrm
| Status | Available to order |
| EMMA ID | EM:11488 |
| International strain name | STOCK Gt(ROSA)26Sortm1(cre/ERT)Brn Gjb2tm1Ugds/Cnrm |
| Alternative name | Cx26-Rosa26-CreERT2 |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gjb2tm1Ugds, Gt(ROSA)26Sortm1(cre/ERT)Brn |
| Gene/Transgene symbol | Gjb2, Gt(ROSA)26Sor |
Information from provider
| Provider | Fabio Mammano |
| Provider affiliation | IBCN, CNR |
| Genetic information | Tamoxifen inducible deletion of connexin 26. |
| Phenotypic information | Homozygous:ABRs measured at postnatal day 21 (P21) were significantly elevated across a frequency range of 4–32 kHz.Heterozygous:Not available |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (gene matching)
- absent mandible / MGI
- decreased embryo size / MGI
- abnormal placenta development / MGI
- abnormal lymphatic vessel morphology / MGI
- no abnormal phenotype detected / MGI
- no phenotypic analysis / MGI
- lymphedema / MGI
- embryonic growth retardation / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- abnormal placental transport / MGI
- cardiovascular system phenotype / MGI
- abnormal mesenchyme morphology / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- absent lymphatic vessels / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- decreased placental labyrinth size / MGI
- abnormal ear pigmentation / MGI
- decreased circulating LDL cholesterol level / MGI
- decreased hematocrit / MGI
- increased leukocyte cell number / MGI
- decreased neutrophil cell number / MGI
- extramedullary hematopoiesis / MGI
- abnormal erythropoiesis / MGI
- abnormal myocardial fiber morphology / MGI
- abnormal cell death / MGI
- increased granulocyte number / MGI
- increased cell proliferation / MGI
- alopecia / MGI
- short snout / MGI
- abnormal digestive system morphology / MGI
- gastrointestinal hemorrhage / MGI
- increased rib number / MGI
- abnormal pulmonary artery morphology / MGI
- rectal prolapse / MGI
- abnormal renal/urinary system morphology / MGI
- abnormal mammary gland development / MGI
- abnormal spleen morphology / MGI
- enlarged spleen / MGI
- enlarged lymph nodes / MGI
- dystrophic muscle / MGI
- absent notochord / MGI
- abnormal retinal photoreceptor morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- pigmentation phenotype / MGI
- increased body weight / MGI
- decreased body weight / MGI
- decreased body size / MGI
- retinal degeneration / MGI
- disorganized retinal layers / MGI
- abnormal optic nerve morphology / MGI
- decreased anxiety-related response / MGI
- circling / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal eating behavior / MGI
- limb grasping / MGI
- increased circulating triglyceride level / MGI
- increased circulating free fatty acid level / MGI
- increased circulating HDL cholesterol level / MGI
- hyperglycemia / MGI
- anemia / MGI
- abnormal blood vessel morphology / MGI
- abnormal mesoderm development / MGI
- abnormal somite development / MGI
- decreased trophoblast giant cell number / MGI
- postnatal growth retardation / MGI
- impaired wound healing / MGI
- abnormal humoral immune response / MGI
- arrested B cell differentiation / MGI
- arrested T cell differentiation / MGI
- increased inflammatory response / MGI
- reduced fertility / MGI
- reduced female fertility / MGI
- male infertility / MGI
- decreased litter size / MGI
- respiratory distress / MGI
- abnormal pain threshold / MGI
- increased thermal nociceptive threshold / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal glucose homeostasis / MGI
- increased circulating insulin level / MGI
- premature death / MGI
- abnormal tail morphology / MGI
- abnormal kidney morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal seminiferous tubule morphology / MGI
- small lymph nodes / MGI
- abnormal spleen white pulp morphology / MGI
- abnormal bone marrow cell morphology/development / MGI
- abnormal megakaryocyte progenitor cell morphology / MGI
- abnormal proerythroblast morphology / MGI
- abnormal megakaryocyte morphology / MGI
- increased mean corpuscular volume / MGI
- decreased mean corpuscular volume / MGI
- increased mean platelet volume / MGI
- hepatic steatosis / MGI
- abnormal epididymis morphology / MGI
- vestigial tail / MGI
- reticulocytosis / MGI
- abnormal keratinocyte differentiation / MGI
- decreased circulating corticosterone level / MGI
- asthenozoospermia / MGI
- oligozoospermia / MGI
- abnormal renal tubule morphology / MGI
- decreased circulating insulin level / MGI
- abnormal chemical nociception / MGI
- dilated heart left ventricle / MGI
- decreased vertical activity / MGI
- abnormal notochord morphology / MGI
- abnormal ocular fundus morphology / MGI
- albuminuria / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- no phenotypic analysis / MGI
- vertebral transformation / MGI
- abnormal lumbar vertebrae morphology / MGI
- abnormal skeletal muscle fiber morphology / MGI
- absent allantois / MGI
- hypospadia / MGI
- anal atresia / MGI
- increased erythroid progenitor cell number / MGI
- abnormal embryonic hematopoiesis / MGI
- kinked neural tube / MGI
- epididymal inflammation / MGI
- nervous system phenotype / MGI
- abnormal nervous system morphology / MGI
- kidney cysts / MGI
- pallor / MGI
- abnormal neural tube closure / MGI
- abnormal retinal inner nuclear layer morphology / MGI
- vascular smooth muscle hypoplasia / MGI
- skeletal muscle necrosis / MGI
- abnormal defecation / MGI
- abnormal heart left ventricle morphology / MGI
- abnormal circulating lipid level / MGI
- abnormal hormone level / MGI
- increased lean body mass / MGI
- abnormal rod electrophysiology / MGI
- abnormal cone electrophysiology / MGI
- caudal body truncation / MGI
- abnormal vitelline vascular remodeling / MGI
- abnormal sarcomere morphology / MGI
- increased compact bone thickness / MGI
- transmission ratio distortion / MGI
- abnormal basement membrane morphology / MGI
- short frontal bone / MGI
- short nasal bone / MGI
- increased incidence of tumors by chemical induction / MGI
- caudal vertebral transformation / MGI
- cervical vertebral transformation / MGI
- lumbar vertebral transformation / MGI
- thoracic vertebral transformation / MGI
- cervical vertebral fusion / MGI
- absent caudal vertebrae / MGI
- small sacral vertebrae / MGI
- abnormal vertebral column morphology / MGI
- notochord degeneration / MGI
- truncated notochord / MGI
- abnormal platelet morphology / MGI
- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- increased hematopoietic stem cell number / MGI
- decreased testis weight / MGI
- increased energy expenditure / MGI
- decreased adiponectin level / MGI
- decreased epididymis weight / MGI
- abnormal epididymis epithelium morphology / MGI
- skin inflammation / MGI
- decreased B-1 B cell number / MGI
- increased neuronal precursor cell number / MGI
- increased osteoblast cell number / MGI
- decreased lymphocyte cell number / MGI
- decreased cardiac muscle contractility / MGI
- cachexia / MGI
- increased susceptibility to injury / MGI
- decreased circulating cholesterol level / MGI
- abnormal retinal pigment epithelium morphology / MGI
- abnormal rostral-caudal axis patterning / MGI
- glomerulosclerosis / MGI
- increased oxygen consumption / MGI
- impaired glucose tolerance / MGI
- spina bifida occulta / MGI
- decreased triglyceride level / MGI
- abnormal renal glomerulus morphology / MGI
- insulin resistance / MGI
- muscle phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- cardiovascular system phenotype / MGI
- immune system phenotype / MGI
- reproductive system phenotype / MGI
- skeleton phenotype / MGI
- hematopoietic system phenotype / MGI
- increased circulating thyroxine level / MGI
- increased circulating triiodothyronine level / MGI
- abnormal skeleton morphology / MGI
- abnormal body temperature / MGI
- choroidal neovascularization / MGI
- abnormal eye electrophysiology / MGI
- decreased circulating glucose level / MGI
- increased mean corpuscular hemoglobin / MGI
- decreased mean corpuscular hemoglobin / MGI
- decreased angiogenesis / MGI
- increased bone mass / MGI
- abnormal cell physiology / MGI
- increased susceptibility to diet-induced obesity / MGI
- decreased susceptibility to diet-induced obesity / MGI
- decreased circulating leptin level / MGI
- increased circulating leptin level / MGI
- increased mitochondrial fission / MGI
- increased apoptosis / MGI
- abnormal tail development / MGI
- abnormal spermatid morphology / MGI
- intestine polyps / MGI
- abnormal paraxial mesoderm morphology / MGI
- abnormal podocyte slit diaphragm morphology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- decreased CD8-positive, alpha-beta T cell number / MGI
- abnormal granulocyte differentiation / MGI
- abnormal monocyte differentiation / MGI
- podocyte foot process effacement / MGI
- increased germinal center B cell number / MGI
- decreased B-2 B cell number / MGI
- decreased mature B cell number / MGI
- increased megakaryocyte cell number / MGI
- abnormal bone ossification / MGI
- retinal photoreceptor degeneration / MGI
- abnormal medium spiny neuron morphology / MGI
- retinal outer nuclear layer degeneration / MGI
- increased circulating tumor necrosis factor level / MGI
- increased circulating interleukin-1 alpha level / MGI
- increased circulating interleukin-1 beta level / MGI
- increased interleukin-17 secretion / MGI
- decreased survivor rate / MGI
- increased B cell apoptosis / MGI
- increased liver iron level / MGI
- increased spleen iron level / MGI
- increased circulating iron level / MGI
- lipofuscinosis / MGI
- abnormal physiological response to xenobiotic / MGI
- decreased erythroid progenitor cell number / MGI
- anal stenosis / MGI
- hairpin sperm flagellum / MGI
- increased abdominal fat pad weight / MGI
- increased trophoblast giant cell number / MGI
- centrally nucleated skeletal muscle fibers / MGI
- skeletal muscle endomysial fibrosis / MGI
- abnormal synaptonemal complex / MGI
- abnormal mammary gland duct morphology / MGI
- decreased thymocyte apoptosis / MGI
- enlarged popliteal lymph nodes / MGI
- decreased birth body size / MGI
- impaired somite development / MGI
- increased total body fat amount / MGI
- abnormal placenta physiology / MGI
- abnormal retinal blood vessel morphology / MGI
- decreased mammary gland epithelial cell proliferation / MGI
- decreased tumor latency / MGI
- altered tumor pathology / MGI
- mortality/aging / MGI
- integument phenotype / MGI
- increased bone volume / MGI
- abnormal double-strand DNA break repair / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- abnormal anterior visceral endoderm cell migration / MGI
- increased circulating erythropoietin level / MGI
- renal tubule atrophy / MGI
- lethality, complete penetrance / MGI
- increased mitochondria number / MGI
- rectal atresia / MGI
- rectourethral fistula / MGI
- increased hematopoietic stem cell proliferation / MGI
- increased food intake / MGI
- impaired mammary gland growth during pregnancy / MGI
- decreased paraxial mesoderm size / MGI
- abnormal skeletal muscle regeneration / MGI
- testis degeneration / MGI
- preputial gland inflammation / MGI
- nervous system inclusion bodies / MGI
- decreased fatty acid beta-oxidation / MGI
- epididymis hypertrophy / MGI
- spermatocele / MGI
- epididymis fibrosis / MGI
- increased epididymal cell proliferation / MGI
- increased epididymal epithelium cell proliferation / MGI
- increased heart iron level / MGI
- increased intestinal iron level / MGI
Literature references
- Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea.;Sun Yu, Tang Wenxue, Chang Qing, Wang Yunfeng, Kong Weijia, Lin Xi, ;2009;The Journal of comparative neurology;516;569-79; 19673007