Gene Summary

Name:
nuclear protein transcription regulator 1
Synonyms:
p8,  Com1,  2310032H04Rik

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.

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Viewing: all phenotypes

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 Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Nupr1 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 Nupr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... OMIM:614897
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:309120
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro... OMIM:400045
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Dec... ORPHA:432
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... OMIM:400044
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Young Syndrome
Azoospermia OMIM:279000
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for... ORPHA:261519
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Hemochromatosis, Type 1
Impotence, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Diabetes m... OMIM:235200
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... ORPHA:2495
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Patent ductus arteriosu... ORPHA:251066
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Cryptorchidism, Decreased response to growth hormo... ORPHA:254516
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Small scrotum, Central hypothyro... ORPHA:398079
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... ORPHA:168569
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Cryptorchidism, Hypogonadism ORPHA:3306
Trisomy X
Precocious puberty, Premature ovarian insufficiency, Secondary amenorrhea ORPHA:3375
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Temple Syndrome
Precocious puberty, Decreased testicular size, Maturity-onset diabetes of the young, Cryptorchidism OMIM:616222
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Ollier Disease
Precocious puberty ORPHA:296
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Patent ductus arteriosus, D... ORPHA:84
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Small scrotum, Central hypothyroidism, Hypogonadism, A... ORPHA:398069
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased response to growth hormone stimulation test, Hyperin... OMIM:176270
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration ORPHA:356961
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Ovarian neoplasm, Ne... ORPHA:370348
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypothyroidism, Hypospadias, Cryptorchidism ORPHA:254346
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Micropenis, Nephrogenic diabet... OMIM:209900
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty ORPHA:819
Carpenter Syndrome 1
Precocious puberty, External genital hypoplasia, Cryptorchidism, Patent ductus arteriosus OMIM:201000
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Prolonged G2 phase of cell cycle, Micropenis, Patent ductus art... OMIM:227646
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Patent ductus arteriosus, Abnormal female external genitalia morphology ORPHA:2637
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Panhypopituitarism, De... OMIM:146510
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Myhre Syndrome
Precocious puberty, Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Delayed puberty, Azoospermia ORPHA:2072
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism ORPHA:96092
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism ORPHA:2874
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:615485
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Hypospadias, Type II diabetes mellitus OMIM:210720
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Decreased response to growth hormone stimulation test, ... ORPHA:96182
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99226
Alexander Disease
Precocious puberty, Hypothyroidism, Diabetes mellitus ORPHA:58
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus OMIM:619269
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Patent ductus arteriosus, Precocious puberty ORPHA:369837
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Tay-Sachs Disease
Precocious puberty ORPHA:845
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:191100
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Ambiguous genit... OMIM:270400
Kabuki Syndrome
Precocious puberty, Hypoplasia of penis, Hypospadias, Cryptorchidism ORPHA:2322
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis OMIM:301066
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Adenoma sebaceum OMIM:613254
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Patent ductus arteriosus, Cryptorchidism OMIM:616682
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Primary adrenal insuff... ORPHA:363958
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap... ORPHA:438213
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Aicardi Syndrome
Precocious puberty OMIM:304050
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor, Abnormali... ORPHA:636
Williams Syndrome
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... ORPHA:904
Wolf-Hirschhorn Syndrome
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism OMIM:194190
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
17Q11 Microdeletion Syndrome
Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Delayed pub... ORPHA:97685
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias ORPHA:93357

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 Nupr1

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 Nupr1.

No publications found that use IMPC mice or data for Nupr1.

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
Nupr1em1(IMPC)Bay Whole-gene deletion Mice
Nupr1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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