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

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Wholemount

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 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
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Vaginal Atresia
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, C... ORPHA:65681
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
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... ORPHA:168563
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology ORPHA:3411
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... ORPHA:754
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Ovarian Fibrothecoma
Gonadal calcification, Peritonitis, Abnormality of the ovary, Ascites, Abnormal endometrium morph... ORPHA:314478
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... OMIM:619151
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Satoyoshi Syndrome
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... ORPHA:3130
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:615300
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... OMIM:194080
Lumbar Syndrome
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... ORPHA:83628
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... OMIM:158330
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Aplasia of the uterus, Septate vagina, Aplasia of the vagina, Uterus didelphys OMIM:146255
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus ORPHA:247768
Omodysplasia 2
Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis OMIM:164745
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
46,Xy Sex Reversal 4
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... OMIM:154230
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Optic nerve hypoplasia, Hypoplasia of the uterus OMIM:617914
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus OMIM:263210
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... ORPHA:1655
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... ORPHA:432
Duplication Of Urethra
Penile hypospadias, Bifid scrotum, Urethral stricture, Epispadias, Hypospadias, Micropenis, Septa... ORPHA:237
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... OMIM:202010
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Hypospadias, Abnormality of the urethra, Bicornuate uterus ORPHA:2438
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... ORPHA:90796
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Microphthalmia, Syndromic 9
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... OMIM:601186
Prune Belly Syndrome
Urogenital sinus anomaly, Congenital posterior urethral valve, Decreased testicular size, Abnorma... ORPHA:2970
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Longitudinal vaginal septum, Uterus didelphys, Micropenis, Chordee OMIM:140000
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... OMIM:258040
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Meacham Syndrome
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Accessory spleen, S... OMIM:608978
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Bicornuate uter... ORPHA:93111
Pagod Syndrome
Ambiguous genitalia, Abnormal testis morphology, Optic atrophy, Agonadism, Abnormality of the ute... ORPHA:991
46,Xx Gonadal Dysgenesis
Streak ovary, Ambiguous genitalia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis ORPHA:243
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Septate vagina, Uterus didelphys, Aplasia of the uterus ORPHA:2237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male... ORPHA:90793
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Microsporidiosis
Lymphadenitis, Abnormal fallopian tube morphology, Prostatitis, Hepatitis, Peritonitis, Biliary t... ORPHA:2552
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonadal dysgenesis, Hypoplasia o... OMIM:618419
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Cryptorchidism, Bicornuate uterus ORPHA:2059
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Biliary tract abnormality, Epidid... OMIM:137920
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicornuate uterus, Labial hypoplasia, Septate vagina, Rectovaginal fistula, Clitoral hypertrophy OMIM:300707
Pseudotrisomy 13 Syndrome
Micropenis, Cryptorchidism, Bicornuate uterus OMIM:264480
Rhombencephalosynapsis
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Optic atrophy, Microphallus, Aplasia of the uterus, Fatigable ... ORPHA:284339
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... ORPHA:289548
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Waardenburg Syndrome
Abnormality of the uterus, Aganglionic megacolon, Abnormal vagina morphology ORPHA:3440
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology, Hypoplasia of penis, Hyp... ORPHA:99776
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo... OMIM:241080
Schinzel-Giedion Midface Retraction Syndrome
Bicornuate uterus, Hypoplastic labia minora, Hypoplastic labia majora, Hepatoblastoma, Hypospadia... OMIM:269150
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee OMIM:309801
Fanconi Anemia
Leukopenia, Anemia, Abnormality of the liver, Abnormal testis morphology, Abnormal preputium morp... ORPHA:84
Smith-Lemli-Opitz Syndrome
Cirrhosis, Precocious puberty, Ambiguous genitalia, Bifid scrotum, Bicornuate uterus, Aganglionic... OMIM:270400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Hypospadias, Cryptorchidism, Enlarged ovaries ORPHA:2745
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Fryns Syndrome
Shawl scrotum, Bicornuate uterus, Bifid scrotum, Polysplenia, Aganglionic megacolon, Ectopic panc... OMIM:229850
Woodhouse-Sakati Syndrome
Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu... ORPHA:3464
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... OMIM:614527
Alg9-Cdg
Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Hypoplasia of the ovary, Hepatomegaly, H... ORPHA:79328
Currarino Syndrome
Septate vagina, Rectovaginal fistula, Bicornuate uterus OMIM:176450
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Uterus didelphys, Bicornuate uterus OMIM:200980
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Micropenis OMIM:617925
Exstrophy-Epispadias Complex
Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Cy... ORPHA:322
Bartsocas-Papas Syndrome 1
Ambiguous genitalia, Bicornuate uterus, Bilateral cryptorchidism, Absent external genitalia, Hypo... OMIM:263650
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Endometriosis, Hypospadias, Micropenis ORPHA:363444
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus OMIM:271520
Meckel Syndrome 14
Aplasia of the uterus, Hepatic fibrosis, Ambiguous genitalia OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Hypospadias, Abnormal vagina morphology OMIM:236680
Fraser Syndrome
Urethral atresia, Ambiguous genitalia, Bicornuate uterus, Hypoplasia of penis, Female pseudoherma... ORPHA:2052
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse OMIM:130050
Fraser Syndrome 1
Bicornuate uterus, Abnormality of the thymus, Vaginal atresia, Hypospadias, Cryptorchidism, Micro... OMIM:219000
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Bicornuate uterus, Pulmonary lymphangiectasia, Hypospadias, Annular pancreas, Right ven... OMIM:265380
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia of the ovary, Agonadism, Non-obstructive azoospermia, Hypergonadotropic hypogonadism, Cry... ORPHA:2232
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... ORPHA:90794
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... OMIM:201750
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Bicornuate uterus OMIM:154400
Meckel Syndrome, Type 1
Asplenia, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, male, Ma... OMIM:249000
Ulnar-Mammary Syndrome
Abnormality of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:3138
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Anemia, Micropenis, Bone marrow hypocellularity OMIM:614083
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Hepatopulmonary fusion, Unilateral cryptorch... OMIM:618280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus ORPHA:572333
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, Urethral valve, ... OMIM:107480
Ulnar-Mammary Syndrome
Imperforate hymen, Bicornuate uterus, Shawl scrotum, Small scrotum, Micropenis OMIM:181450
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Anemia, Hepatosplenomegaly, Aplasia of the uterus, Leukocytosis, Eosinophilia, ... OMIM:274000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unicornuate uterus, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Fetal ascites, Chole... OMIM:619503
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Optic atrophy, Aganglionic megacolon, Abnormality of the uterus, Hyposp... ORPHA:567
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Norrie Disease
Uterine rupture, Optic atrophy, Cryptorchidism ORPHA:649
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Cryptorchidism, Uterus didelphy... ORPHA:93271
Cowden Syndrome
Abnormality of the uterus, Enlarged polycystic ovaries, Endometrial carcinoma, Abnormal penis mor... ORPHA:201
Roberts-Sc Phocomelia Syndrome
Bicornuate uterus, Enlarged labia minora, Biliary tract abnormality, Long penis, Hypospadias, Acc... OMIM:268300
Peters-Plus Syndrome
Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Biliary tract abnormali... OMIM:261540
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Peters Plus Syndrome
Optic atrophy, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse ORPHA:286
Wolf-Hirschhorn Syndrome
Precocious puberty, Biliary tract abnormality, Aplasia of the uterus, Hypospadias, Accessory sple... OMIM:194190
Townes-Brocks Syndrome
Bifid scrotum, Rectoperineal fistula, Hypoplasia of penis, Abnormality of the uterus, Hypospadias... ORPHA:857
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Precocious puberty, Cryptorchidism, Uterine prolapse, Optic disc pallor ORPHA:438213
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Cervical insufficiency, Uterine prolapse ORPHA:287
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism OMIM:135900
Cornelia De Lange Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Abnormality of the uterus, Hypospadias, Cryptorchi... ORPHA:199
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Uterine prolapse ORPHA:284984
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Loeys-Dietz Syndrome 3
Left ventricular hypertrophy, Cystocele, Uterine prolapse OMIM:613795
Pallister-Killian Syndrome
Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of the uterus, ... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Astrocyte and Neuronal Pannexin1 Contribute Distinctly to Seizures. ASN neuro (January 2019) Panx2tm1a(KOMP)Wtsi PMC6415468
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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