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Gene: Rspo1 MGI:2183426

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Gene Summary

Name:
R-spondin 1
Synonyms:
Rspondin,  R-spondin

Order Alleles

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
decreased total retina thickness Rspo1tm2b(KOMP)Wtsi HOM Early adult 2.73×10-07
increased circulating creatinine level Rspo1tm2b(KOMP)Wtsi HOM Early adult 8.28×10-05
decreased total body fat amount Rspo1tm1.1(KOMP)Vlcg HOM Early adult 2.59×10-08
decreased brain weight Rspo1tm1.1(KOMP)Vlcg HOM Early adult 4.27×10-06
decreased lean body mass Rspo1tm2b(KOMP)Wtsi HOM Early adult 2.00×10-06
female infertility Rspo1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Rspo1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal vibrissa morphology Rspo1tm1.1(KOMP)Vlcg HOM Early adult 1.15×10-05
increased bone mineral content Rspo1tm1.1(KOMP)Vlcg HOM Early adult 2.36×10-05
small testis Rspo1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Rspo1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased grip strength Rspo1tm1.1(KOMP)Vlcg HOM Early adult 9.23×10-06
abnormal eye anterior chamber depth Rspo1tm2b(KOMP)Wtsi HOM Early adult 2.00×10-09
abnormal retina outer nuclear layer morphology Rspo1tm2b(KOMP)Wtsi HOM Early adult 2.11×10-06
increased lean body mass Rspo1tm1.1(KOMP)Vlcg HOM Early adult 1.34×10-06
abnormal vitreous body morphology Rspo1tm2b(KOMP)Wtsi HOM Early adult 3.88×10-10
increased lymphocyte cell number Rspo1tm2b(KOMP)Wtsi HOM Early adult 5.40×10-05
increased circulating alkaline phosphatase level Rspo1tm2b(KOMP)Wtsi HOM Early adult 3.44×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Diaphragm  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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

34 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Rspo1 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.

The table below shows human diseases associated to Rspo1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Ambiguous genitalia, Decreas... OMIM:610644

The table below shows human diseases predicted to be associated to Rspo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism ORPHA:1552
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals OMIM:219750
46,Xy Sex Reversal 9
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated cir... ORPHA:90796
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Female external genit... ORPHA:90791
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u... OMIM:617872
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Female exte... ORPHA:168558
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Female exte... ORPHA:289548
C3 Glomerulopathy
Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin... ORPHA:329918
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Increased circulating cortisol level, O... ORPHA:786
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
Genitopalatocardiac Syndrome
Cryptorchidism, Male pseudohermaphroditism, Hypospadias, Gonadal dysgenesis, male ORPHA:2075
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration OMIM:616733
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Decreased skull ossification, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Displacement of the urethral meatus, Urogenital sinus anomaly, Femal... ORPHA:2973
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... OMIM:608104
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impotence,... OMIM:235200
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Chondrodysplasia-Difference Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Reti... OMIM:221900
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... ORPHA:247691
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Senior-Loken Syndrome 1
Retinal dystrophy, Elevated circulating creatinine concentration, Anemia OMIM:266900
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Abnormality... ORPHA:847
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, El... OMIM:608836
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism ORPHA:140
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre... OMIM:618885
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... OMIM:614643
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Osteoporosis, Weight loss, Infe... ORPHA:465508
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy OMIM:618165
Oligomeganephronia
Small for gestational age, Optic disc coloboma, Elevated circulating creatinine concentration ORPHA:2260
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... OMIM:222300
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Abnormal fallopia... ORPHA:2556
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Meckel Syndrome
True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male pseudohermaphro... ORPHA:564
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... ORPHA:29073
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb... ORPHA:572333
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... OMIM:301074
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Alopecia, Premat... ORPHA:99413
Turner Syndrome
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Alopecia, Premat... ORPHA:881
Mosaic Monosomy X
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Alopecia, Premat... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, Reduced bone mineral density, Hashimoto thyroiditis, Alopecia, Premat... ORPHA:99226
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hemorrhage, Thr... OMIM:620185
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Osteoporosis, Abnormality... ORPHA:3063
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
C Syndrome
Cryptorchidism, Female pseudohermaphroditism ORPHA:1308
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Decreased circulating cortisol level,... ORPHA:95699
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss ORPHA:139402
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Ambiguous genitalia, Decreas... OMIM:610644
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Weight los... ORPHA:50918
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170

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 Rspo1

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 Rspo1.

No publications found that use IMPC mice or data for Rspo1.

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
Rspo1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Rspo1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Rspo1tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Rspo1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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