Gene Summary

Name:
gap junction protein, beta 3
Synonyms:
connexin 31,  Gjb-3,  Cx31,  Cnx31,  D4Wsu144e

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Gjb3tm1.1(KOMP)Vlcg HET Early adult 5.65×10-05
abnormal skin appearance Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
embryonic growth retardation Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal heart morphology Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
pallor Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
pale liver Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal skin coloration Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal auditory brainstem response Gjb3tm1.1(KOMP)Vlcg HET   Early adult 4.03×10-05
abnormal embryo size Gjb3tm1.1(KOMP)Vlcg HOM E15.5 0.00
preweaning lethality, complete penetrance Gjb3tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 3)
Heart atrium N/A homozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 100% (3 of 3)
Axial skeleton N/A homozygote 50% (1 of 2)
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote 50% (1 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 3)
Central nervous system ganglion N/A homozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 3)
Dorsal root ganglion N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 100% (3 of 3)
Ear N/A homozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Outer ear N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 100% (3 of 3)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (3 of 3)
Forelimb N/A homozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (3 of 3)
Fronto-nasal process N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (3 of 3)
Handplate N/A homozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 33.33% (1 of 3)
Head mesenchyme N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 3)
Heart ventricle N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (3 of 3)
Hindlimb N/A homozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (3 of 3)
Inner ear N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 100% (2 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 2)
Meckel's cartilage N/A heterozygote 0.0% (0 of 3)
Meckel's cartilage N/A homozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 100% (3 of 3)
Metanephros N/A homozygote 100% (2 of 2)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 3)
Nasal septum N/A homozygote 0.0% (0 of 2)
Nose N/A heterozygote 100% (3 of 3)
Nose N/A homozygote 100% (2 of 2)
Notochord N/A heterozygote 0.0% (0 of 3)
Notochord N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 100% (2 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 3)
Outflow tract N/A homozygote 0.0% (0 of 2)
N/A heterozygote 33.33% (1 of 3)
N/A homozygote 100% (2 of 2)
Pharynx N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 33.33% (1 of 3)
Skeleton N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote 0.0% (0 of 2)
Tongue N/A heterozygote Ambiguous
Tongue N/A homozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 3)
Trunk mesenchyme N/A homozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 3)
Vibrissa N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 564)
aorta 0.18% (1 of 557)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cecum 5.98% (22 of 368)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.94% (5 of 127)
epididymis 13.48% (19 of 141)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.73% (1 of 137)
heart 0.35% (2 of 564)
hindlimb 0.0%
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
ileum 13.43% (18 of 134)
jejunum 9.16% (12 of 131)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 554)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
stomach pyloric region 0.0%
striatum 0.53% (3 of 563)
sublingual gland 0.0%
submandibular gland 1.49% (2 of 134)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
tongue 3.73% (5 of 134)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 566)
vagina 0.0%
vas deferens 4.79% (18 of 376)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 510)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
meckel's cartilage 0.0%
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 510)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 505)
outflow tract 1.67% (1 of 60)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
tongue 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

44 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Gjb3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gjb3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Erythrokeratodermia Variabilis
Hypermelanotic macule, Irregular hyperpigmentation, Short stature, Erythema, Dry skin ORPHA:317
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment OMIM:220290

The table below shows human diseases predicted to be associated to Gjb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease, Abnormality of skin pigmentation OMIM:268040
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Placental Insufficiency
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... ORPHA:439167
Retinitis Pigmentosa 42
Pallor OMIM:612943
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Retinitis Pigmentosa 81
Pallor OMIM:617871
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Retinitis Pigmentosa 60
Pallor OMIM:613983
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Albinism, Hypopigmentation of the skin, Short stature ORPHA:2786
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Hyperpigmentation of the skin, Splenomegaly ORPHA:75563
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 9
Pallor OMIM:616289
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Breath-Holding Spells
Pallor OMIM:607578
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Splenomegaly, Short stature, Pallor, Growth delay, Jaundice OMIM:615631
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Retinitis Pigmentosa 73
Pallor OMIM:616544
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Cholecystitis, Intrauterine growth ... OMIM:266200
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... ORPHA:848
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Optic Atrophy 1
Pallor OMIM:165500
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Hearing impairment ORPHA:2169
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Pallor, Atrial septal defect, Short stature ORPHA:49827
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254534
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Hepatomegaly, Splenomegaly ORPHA:163596
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Optic disc pallor, Poikilocytosis, Elliptocytosi... OMIM:616959
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, H... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:276556
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... OMIM:612562
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:276580
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Th... ORPHA:261250
Fanconi Anemia, Complementation Group I
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Caf... OMIM:609053
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Anemia, Leukopenia, Aplastic anemia, Normocytic a... ORPHA:811
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Elevated hepatic transaminase, Skin ulcer ORPHA:507
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Leukopenia... ORPHA:124
Dominant Beta-Thalassemia
Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatosplenomegaly,... ORPHA:231226
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Pallor, Skin ulcer, Growt... ORPHA:822
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Jaundice OMIM:194380
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Myocarditis, Cardiomyopathy ORPHA:3386
Primary Myelofibrosis
Petechiae, Hepatomegaly, Splenomegaly, Pallor, Hepatosplenomegaly, Purpura, Ecchymosis, Portal hy... ORPHA:824
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosp... ORPHA:231222
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Fetal Akinesia Deformation Sequence 1
Fetal akinesia sequence, Short umbilical cord, Small placenta, Polyhydramnios, Stillbirth, Premat... OMIM:208150
Beta-Thalassemia Major
Hepatomegaly, Splenomegaly, Pallor, Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Dila... ORPHA:231214
Retinitis Pigmentosa 51
Pallor OMIM:613464
Senior-Loken Syndrome 8
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Retinitis Pigmentosa 75
Pallor OMIM:617023
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Jaundice, Splenomegaly ORPHA:90033
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Small placenta, Polyhydramnios, Spina bifida, Stillbirth, ... OMIM:256520
Acquired Idiopathic Sideroblastic Anemia
Pallor, Hepatomegaly, Splenomegaly ORPHA:75564
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Umbilical hernia, Large placenta ORPHA:254528
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Restrictive Dermopathy
Short umbilical cord, Small placenta, Polyhydramnios, Premature delivery because of cervical insu... ORPHA:1662
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Jaundice, Splenomegaly, Prolonged neonatal jaundice OMIM:300908
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials ORPHA:529799
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Dravet Syndrome
Pallor ORPHA:33069
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Fumarase Deficiency
Pallor, Cholestasis, Hepatic failure OMIM:606812
Kagami-Ogata Syndrome
Polyhydramnios, Premature birth, Large placenta ORPHA:254519
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Mosaic Trisomy 16
Single umbilical artery, Preeclampsia, Maternal diabetes, Premature birth, Large placenta ORPHA:1708
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot, Abnormal heart mo... OMIM:600901
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:331206
Fanconi Anemia, Complementation Group C
Short stature, Anemic pallor, Ventricular septal defect, Hyperpigmentation of the skin, Cafe-au-l... OMIM:227645
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait spot, Abnormal heart... OMIM:227650
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Pallor, Purpura, Jaundice ORPHA:90051
Greenberg Dysplasia
Echogenic fetal bowel, Hydrops fetalis, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... OMIM:215140
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Erythrokeratodermia Variabilis
Hypermelanotic macule, Irregular hyperpigmentation, Short stature, Erythema, Dry skin ORPHA:317
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Pallor, Acute pancreatitis, Elevated hepatic tra... ORPHA:20
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis OMIM:133200
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Trichohepatoenteric Syndrome 1
Abnormalities of placenta or umbilical cord, Polyhydramnios, Large placenta OMIM:222470
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pallor, Pancreatic fibrosis, Er... OMIM:557000
Childhood Absence Epilepsy
Pallor ORPHA:64280
Waldenström Macroglobulinemia
Pallor, Purpura, Hepatomegaly, Splenomegaly ORPHA:33226
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly ORPHA:134
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Rare Circulatory System Disease
Pallor ORPHA:98028
Incontinentia Pigmenti
Pallor, Abnormality of skin pigmentation, Erythema, Short stature OMIM:308300
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Neonatal death, Spontaneous chorioamniotic ... OMIM:275210
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Hepatomegaly, Splenomegaly ORPHA:98849
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Splenomegaly, Pallor, Chronic hepatitis, Hepatosplenomegaly, Elevated hepatic trans... ORPHA:3260
Fanconi Anemia, Complementation Group D2
Annular pancreas, Short stature, Anemic pallor, Abnormality of skin pigmentation, Cafe-au-lait sp... OMIM:227646
Diamond-Blackfan Anemia 1
Atrial septal defect, Short stature, Tricuspid stenosis, Pallor, Ventricular septal defect, Intra... OMIM:105650
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anemia, Optic atrophy, Macrotia, Abnormality of peripheral n... ORPHA:90321
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214
Degcags Syndrome
Atrial septal defect, Hepatomegaly, Dysplastic pulmonary valve, Pulmonic stenosis, Pallor, Abnorm... OMIM:619488
Aregenerative Anemia
Pallor ORPHA:101096
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Meckel Syndrome, Type 1
Single umbilical artery, Anencephaly, Oligohydramnios, Occipital encephalocele, Breech presentati... OMIM:249000
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Pallor, Growth delay ORPHA:667
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Histiocytoid Cardiomyopathy
Ventricular septal defect, Pallor, Hepatomegaly, Cardiomegaly ORPHA:137675
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pallor, Myocarditis, Cardiomyopathy, Pancreatic cysts, Pancreatic islet... ORPHA:892
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatosplenomegaly, Optic ... ORPHA:79330
Adenohypophysitis
Pallor ORPHA:95512
Pituitary Apoplexy
Pallor ORPHA:95613
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Panhypophysitis
Pallor ORPHA:95513
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy ORPHA:2131
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Esophageal Atresia
Ventricular septal defect, Growth delay, Pallor, Tetralogy of Fallot ORPHA:1199
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polyhydramnios, Umbilical hernia, Premature birth, Large placenta ORPHA:116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Premature birth, Large placenta ORPHA:96334
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis, Myocarditis ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Pallor, Pericardial effusion, Delayed puberty ORPHA:91347
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment OMIM:220290

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gjb3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gjb3.

No publications found that use IMPC mice or data for Gjb3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Gjb3tm214962(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gjb3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Gjb3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter