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
increased spleen weight Panx2tm1b(KOMP)Wtsi HOM Early adult 8.06×10-08
hydrometra Panx2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased prepulse inhibition Panx2tm1b(KOMP)Wtsi HOM   Early adult 3.57×10-06
small superior vagus ganglion Panx2tm1b(KOMP)Wtsi HOM Early adult 0.00
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Vaginal Atresia
Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,... 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
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormality... ORPHA:168563
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Ovarian Fibrothecoma
Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,... ORPHA:314478
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Hypopl... OMIM:619151
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema OMIM:146255
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis OMIM:164745
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Periportal fibrosis OMIM:263210
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hepatospl... ORPHA:1655
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Prune Belly Syndrome
Decreased testicular size, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus ORPHA:2970
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Pagod Syndrome
Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru... ORPHA:991
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Hypospadias, Aplasia... ORPHA:93111
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia ORPHA:2237
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary ORPHA:243
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia of the uterus, Hypoplastic ... OMIM:618419
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def... OMIM:137920
Fryns Syndrome
Aganglionic megacolon, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Microsporidiosis
Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morphology, Lymphadenitis, Abnorm... ORPHA:2552
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Rhombencephalosynapsis
Aganglionic megacolon, Abnormality of the uterus, Septo-optic dysplasia ORPHA:59315
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Fatigable wea... ORPHA:284339
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Waardenburg Syndrome
Aganglionic megacolon, Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol... ORPHA:99776
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Fanconi Anemia
Aganglionic megacolon, Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuat... ORPHA:84
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Splenopancreatic fusion, Hepatoblastoma... OMIM:269150
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Aganglionic megacolon, Penoscrotal hypospadias, Hypospadias... OMIM:270400
Fryns Syndrome
Aganglionic megacolon, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, ... OMIM:229850
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Acrorenal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Bicornuate uterus, H... ORPHA:79328
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder OMIM:617925
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Hydrolethalus Syndrome 1
Accessory spleen, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Abnormal thymus morphology... OMIM:219000
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... OMIM:618280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Cryptorchidism, Non-... ORPHA:2232
Ehlers-Danlos Syndrome, Vascular Type
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Hypospadias, Bicornuate uterus, Asplenia, Pulmonary lymphangiectasia, Right ven... OMIM:265380
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Bicornuate uterus OMIM:154400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis ORPHA:3138
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Anemia OMIM:614083
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Asplenia, Bile duct pro... OMIM:249000
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens ORPHA:411709
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Ulnar-Mammary Syndrome
Imperforate hymen, Bicornuate uterus, Small scrotum, Shawl scrotum, Micropenis OMIM:181450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Fetal ascites, Portal hypertension, Unicornuate uterus, Hepatosplenomegaly, Micropen... OMIM:619503
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Thrombocytopenia-Absent Radius Syndrome
Anemia, Aplasia of the uterus, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia, ... OMIM:274000
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
22Q11.2 Deletion Syndrome
Optic atrophy, Aganglionic megacolon, Hypospadias, Cholelithiasis, Abnormality of the tonsils, Hy... ORPHA:567
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Perineal fistula, Endometriosis OMIM:614075
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Congenital hepatic fibrosis, Ambig... ORPHA:93271
Peters Plus Syndrome
Optic atrophy, Hypospadias, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Cowden Syndrome
Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the uterus, Abnormal penis mor... ORPHA:201
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Bicornuat... OMIM:268300
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Bicornuate uterus ORPHA:2363
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali... OMIM:194190
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Precocious puberty, Uterine prolapse, Cryptorchidism, Optic disc pallor ORPHA:438213
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse, Orthostatic hypotension ORPHA:287
Townes-Brocks Syndrome
Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum... ORPHA:857
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma... ORPHA:199
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Left ventricular hypertrophy ORPHA:284984
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse, Left ventricular hypertrophy OMIM:613795
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... 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 3 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
Role of pannexin 1 channels in load-induced skeletal response. Annals of the New York Academy of Sciences (June 2018) Panx2tm1a(KOMP)Wtsi PMC6310681
Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release. The Journal of clinical investigation (October 2016) Panx2tm1a(KOMP)Wtsi PMC5127677

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.

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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