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Gene: Pias2 MGI:1096566

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Gene Summary

Name:
protein inhibitor of activated STAT 2
Synonyms:
Miz1,  PIASxb,  Dib,  PIASxbeta,  ARIP3,  PIASxalpha,  6330408K17Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal gait Pias2Gt(pT1Betageo)1Ruiz HOM Early adult 1.50×10-06
decreased body length Pias2tm1a(KOMP)Wtsi HOM Early adult 1.46×10-05
abnormal bone structure Pias2tm1a(KOMP)Wtsi HOM Early adult 1.38×10-08
abnormal retina morphology Pias2tm1a(KOMP)Wtsi HOM   Early adult 7.71×10-06
decreased body weight Pias2Gt(pT1Betageo)1Ruiz HOM   Early adult 6.43×10-05
decreased bone mineral content Pias2tm1a(KOMP)Wtsi HOM Early adult 4.94×10-07
abnormal social/conspecific interaction behavior Pias2Gt(pT1Betageo)1Ruiz HOM Early adult 7.06×10-10
increased total body fat amount Pias2tm1a(KOMP)Wtsi HOM Early adult 8.09×10-06
increased circulating insulin level Pias2tm1a(KOMP)Wtsi HOM Early adult 3.42×10-05
abnormal digit morphology Pias2tm1a(KOMP)Wtsi HOM Early adult 5.35×10-05
decreased lean body mass Pias2tm1a(KOMP)Wtsi HOM Early adult 6.82×10-05

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lacZ Expression

Expression data not available

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 Dorso Ventral

14 Images

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DSS Histology

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Legacy Phenotype Associated Images
Pias2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Pias2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Pias2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Pias2tm1a(KOMP)Wtsi
HOM, Male, WTSI
Pias2tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 70 images

Pias2tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Pias2tm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Pias2tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Pias2tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Pias2tm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

View all 9 images

Human diseases caused by Pias2 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 Pias2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... OMIM:619489
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness OMIM:618221
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Chromosome 15Q11-Q13 Duplication Syndrome
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... OMIM:608636
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypog... OMIM:616033
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Short toe, Hyperinsulinemia,... ORPHA:3085
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Obes... ORPHA:791
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... ORPHA:785
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res... ORPHA:528
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hsd10 Disease
Choreoathetosis, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:391417
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Bilateral single transverse palmar creases ORPHA:2849
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Deviation of finger, Increased circulatin... ORPHA:1227
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Large hands, Severe failure to thrive,... OMIM:246200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Alstrom Syndrome
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... OMIM:203800
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... OMIM:176270
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Abnormal optic chiasm morp... ORPHA:300373
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Unicameral bone cyst, ... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph... OMIM:608594
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... ORPHA:79474
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Osteoporosi... OMIM:613327
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... OMIM:269700
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Retinop... ORPHA:769
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Hyperinsulinemic hypogly... ORPHA:71212
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Single transverse palmar crease, Elevated circulating th... OMIM:620185
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Glucose intolerance, Ha... ORPHA:99413
Turner Syndrome
Osteopenia, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Glucose intolerance, Ha... ORPHA:881
Mosaic Monosomy X
Osteopenia, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Glucose intolerance, Ha... ORPHA:99228
Monosomy X
Osteopenia, Reduced bone mineral density, Dermatoglyphic ridges abnormal, Glucose intolerance, Ha... ORPHA:99226
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... ORPHA:3464
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Solitary Fibrous Tumor
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia ORPHA:2126
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior, Slender build ORPHA:93932
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
48,Xxxy Syndrome
Abnormal social behavior, Obesity ORPHA:96263
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Tenorio Syndrome
Osteopenia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Abnormal social behavior, Difficulty walking ORPHA:309271
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal social behavior ORPHA:314647
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated c... ORPHA:79318
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Infertility, Micropenis ORPHA:3310
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Obesity, Impaired social interactions ORPHA:177907
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Inappropriate laughter, Abnormal social behavior, Slender build, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Inappropriate laughter, Abnormal social behavior, Slender build, Overf... ORPHA:363958
Mend Syndrome
Abnormal social behavior, Failure to thrive ORPHA:401973
Trichothiodystrophy
Reduced social reciprocity, Gait ataxia ORPHA:33364
Liver Disease, Severe Congenital
Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemi... OMIM:619991
Niemann-Pick Disease Type C
Progressive gait ataxia, Abnormal social behavior, Ataxia, Gait disturbance ORPHA:646
Williams Syndrome
Failure to thrive in infancy, Ataxia, Obesity, Dysmetria, Gait disturbance, Gait imbalance, Abnor... ORPHA:904
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia ORPHA:2968
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Pias2

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 Pias2.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pias2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pias2tm1a(KOMP)Wtsi PMC6459510

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
Pias2tm119215(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pias2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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