Gene Summary

Name:
pannexin 2
Synonyms:
N/A

IMPC Data Collections

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
hydrometra Panx2tm1b(KOMP)Wtsi HOM Early adult 0.00
small superior vagus ganglion Panx2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased spleen weight Panx2tm1b(KOMP)Wtsi HOM   Early adult 8.06×10-08
decreased prepulse inhibition Panx2tm1b(KOMP)Wtsi HOM   Early adult 3.60×10-06
enlarged uterus Panx2tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images  Section images heterozygote 100% (4 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cecum 5.65% (21 of 372)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
chest bone Unavailable
colon 15.79% (21 of 133)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.76% (1 of 132)
heart 0.17% (1 of 576)
hindlimb 0.0%
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
ileum 14.6% (20 of 137)
jejunum 8.82% (12 of 136)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 315)
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
tongue 3.7% (5 of 135)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vagina 0.0%
vas deferens 4.75% (18 of 379)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Wholemount

11 Images

Human diseases caused by Panx2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Panx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Adenomyosis
Adenomyosis OMIM:600458
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Pelvic mass, Cervicitis, Transverse vagin... ORPHA:65681
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos ORPHA:3411
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Ovarian Fibrothecoma
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... ORPHA:314478
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... OMIM:619151
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Periportal fibrosis OMIM:263210
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormal ... ORPHA:1655
Duplication Of Urethra
Chordee, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, C... ORPHA:237
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Rectovaginal fistula, Clitoral hypertrophy, Bicornuate uterus OMIM:300707
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorch... OMIM:156810
Hand-Foot-Genital Syndrome
Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uterus ORPHA:2438
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... ORPHA:90796
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... OMIM:601186
Hand-Foot-Genital Syndrome
Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Longitudinal vaginal septum OMIM:140000
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Prune Belly Syndrome
Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus, Decreased testicular size, C... ORPHA:2970
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Meacham Syndrome
Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Accessory spleen, Septate vagina, En... OMIM:608978
Pagod Syndrome
Agonadism, Abnormality of the spleen, Abnormal morphology of female internal genitalia, Ambiguous... ORPHA:991
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... ORPHA:93111
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Uterus didelphys, Aplasia of the uterus, Septate vagina ORPHA:2237
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary ORPHA:243
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Microsporidiosis
Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Lymphadenitis, Peritoniti... ORPHA:2552
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Accessory spleen, Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic ... OMIM:618419
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... OMIM:137920
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Fryns Syndrome
Hypospadias, Cryptorchidism, Aganglionic megacolon, Bicornuate uterus ORPHA:2059
Pseudotrisomy 13 Syndrome
Cryptorchidism, Bicornuate uterus, Micropenis OMIM:264480
Rhombencephalosynapsis
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Coffin-Siris Syndrome 9
Hypoplasia of the uterus OMIM:615866
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Streak ovary, Micropenis, Uterus didelphys, Hypospadias, Gonad... OMIM:618820
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aganglionic megacolon ORPHA:3440
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal liver lobulation, Abnormal fallopian tube morphology, Abnormality o... ORPHA:99776
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Bicornuate uterus, Micropenis, Hypospadias, Splenopancreatic fusion, Hypoplastic ... OMIM:269150
Fanconi Anemia
Absent testis, Cryptorchidism, Bicornuate uterus, Abnormal preputium morphology, Hypospadias, Leu... ORPHA:84
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hepatomegaly, Bicornuate uterus, Precocious puberty, Splenomegaly, Mic... OMIM:270400
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism ORPHA:2745
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Streak ovary, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Acrorenal-Mandibular Syndrome
Uterus didelphys, Unicornuate uterus, Bicornuate uterus OMIM:200980
Alg9-Cdg
Hypoplasia of the ovary, Hepatomegaly, Bicornuate uterus, Periportal fibrosis, Hepatic cysts, Enl... ORPHA:79328
Fryns Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... OMIM:229850
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Currarino Syndrome
Rectovaginal fistula, Septate vagina, Bicornuate uterus OMIM:176450
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bicornuate uterus, Micropenis, Ambiguous genitalia, Hypoplastic male e... OMIM:263650
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Bicornuate uterus OMIM:154400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Endometriosis, Micropenis ORPHA:363444
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Accessory spleen, Hypospadias OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Fraser Syndrome
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... ORPHA:2052
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Fraser Syndrome 1
Bicornuate uterus, Micropenis, Hypospadias, Abnormality of the thymus, Clitoral hypertrophy, Vagi... OMIM:219000
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Anemia OMIM:130050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Right ventricular hypertrophy, Pulmonary lymphangiectasia, H... OMIM:265380
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Agonadism, Aplasia/hypoplasia of the uterus, Non-ob... ORPHA:2232
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Meckel Syndrome, Type 1
Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, male, Splenomegaly... OMIM:249000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... OMIM:107480
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis ORPHA:3138
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Anemia, Aplasia of the uterus, Micropenis OMIM:614083
Cardiac-Urogenital Syndrome
Micropenis, Bifid scrotum, Unilateral cryptorchidism, Accessory spleen, Hepatopulmonary fusion, E... OMIM:618280
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Ulnar-Mammary Syndrome
Bicornuate uterus, Imperforate hymen, Micropenis, Shawl scrotum, Small scrotum OMIM:181450
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary ORPHA:572333
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
7Q11.23 Microduplication Syndrome
Hypospadias, Aplasia/hypoplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal... ORPHA:96121
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Aplasia of the uterus, Anemia, Thrombocytopenia, ... OMIM:274000
22Q11.2 Deletion Syndrome
Cholelithiasis, Splenomegaly, Hypospadias, Hypoplasia of the thymus, Abnormality of the tonsils, ... ORPHA:567
Roberts-Sc Phocomelia Syndrome
Bicornuate uterus, Hypospadias, Accessory spleen, Long penis, Biliary tract abnormality, Enlarged... OMIM:268300
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Norrie Disease
Optic atrophy, Cryptorchidism, Uterine rupture ORPHA:649
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Congenital hepatic fibrosis, Ambiguous genitalia, Urethrov... ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micropenis, Hepatosplenomegaly, Cholestasis, Hemolytic anemia, Congenital Horner syndrome, Unicor... OMIM:619503
Cowden Syndrome
Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uterus, Endometrial ca... ORPHA:201
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Biliary tra... OMIM:261540
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia, Optic atrophy, Cryptorchidism ORPHA:709
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Uterine rupture, Cystocele, Hypospadias, Cryptorchidism ORPHA:286
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Accessory spleen, Biliary tract abnormality, Aplasia of the uter... OMIM:194190
Townes-Brocks Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Bifid scrotum, Hypospadias, Rectoperineal fistul... ORPHA:857
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Precocious puberty, Cryptorchidism, Optic disc pallor, Anemia ORPHA:438213
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Orthostatic hypotension, Cervical insufficiency ORPHA:287
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy OMIM:135900
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma... ORPHA:199
Pallister-Hall Syndrome
Precocious puberty, Micropenis, Hydrometrocolpos, Hypospadias, Aplasia/hypoplasia of the uterus, ... ORPHA:672
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum OMIM:276820
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Left ventricular hypertrophy ORPHA:284984
Loeys-Dietz Syndrome 3
Uterine prolapse, Left ventricular hypertrophy, Cystocele OMIM:613795
Pallister-Killian Syndrome
Labial hypoplasia, Hypospadias, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of... OMIM:601803

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 Panx2

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 Panx2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release. The Journal of clinical investigation (October 2016) Panx2tm1a(KOMP)Wtsi PMC5127677

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MGI Allele Allele Type Produced
Panx2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Panx2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Panx2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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