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Gene: Ppp1cc MGI:104872

Gene Summary

Name:

protein phosphatase 1 catalytic subunit gamma

Synonyms:

PP1C gamma 1, PP1C gamma 2, PP1, PP1C gamma

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased mean corpuscular hemoglobin	Ppp1cc^{em1(IMPC)Wtsi}	HOM	Early adult	2.81×10^-10
hypoactivity	Ppp1cc^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.12×10^-05
male infertility	Ppp1cc^{em1(IMPC)Wtsi}	HOM	Early adult	0.00

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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.

Legacy Phenotype Associated Images

Ppp1cc^{em1(IMPC)Wtsi}
abnormal coat/hair pigmentation, HOM, Female, WTSI

Ppp1cc^{em1(IMPC)Wtsi}
tail, abnormal tail morphology, kinked tail, HOM, Male, WTSI

Ppp1cc^{em1(IMPC)Wtsi}
abnormal tail morphology, kinked tail, tail, HOM, Male, WTSI

Ppp1cc^{em1(IMPC)Wtsi}
eye, abnormal eye morphology, narrow eye opening, WT, Female, WTSI

Human diseases caused by Ppp1cc 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.

Human diseases associated with Ppp1cc (0 diseases)
Human diseases predicted to be associated with Ppp1cc (239 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp1cc by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Spermatogenic Failure 51	Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla...	OMIM:619177
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev...	ORPHA:399808
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Infertility	OMIM:608653
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ...	OMIM:619585
Spermatogenic Failure 24	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep...	OMIM:617959
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a...	OMIM:619528
Spermatogenic Failure 10	Abnormal sperm morphology, Infertility	OMIM:614822
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 18	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 35	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Spermatogenic Failure 25	Azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Isochromosomy Yp	Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test...	ORPHA:98797
Spermatogenic Failure 8	Oligospermia, Azoospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 38	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Spermatogenic Failure 2	Oligospermia, Azoospermia	OMIM:108420
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Spermatogenic Failure 9	Globozoospermia	OMIM:613958
Isochromosomy Yq	Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia...	ORPHA:98798
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54	Hyperactivity	OMIM:617028
Schizophrenia 15	Hyperactivity	OMIM:613950
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size	OMIM:229070
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Persistent Mullerian Duct Syndrome, Types I And Ii	Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil...	OMIM:261550
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato...	ORPHA:399805
Familial Male-Limited Precocious Puberty	Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty	ORPHA:3000
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Spermatogenic Failure 3	Infertility	OMIM:606766
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 1	Infertility	OMIM:615774
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 4	Infertility	OMIM:617743
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Delta-Beta-Thalassemia	Microcytic anemia, Anemia, Abnormal hemoglobin	ORPHA:231237
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Isolated Follicle Stimulating Hormone Deficiency	Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Deleted in azoospermia	Azoospermia	OMIM:400003
Hypogonadism, Male	Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias	OMIM:241100
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Morbid Obesity And Spermatogenic Failure	Oligospermia, Infertility, Azoospermia	OMIM:615703
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre...	OMIM:603902
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D...	ORPHA:320391
Hemoglobin E Disease	Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Ring Chromosome Y Syndrome	Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni...	ORPHA:261529
Young Syndrome	Azoospermia	OMIM:279000
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size	OMIM:614897
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh...	OMIM:614837
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism	OMIM:314300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C...	OMIM:614840
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f...	OMIM:618086
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre...	OMIM:146110
Spermatogenic Failure 4	Recurrent spontaneous abortion, Azoospermia	OMIM:270960
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia	OMIM:618300
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility	ORPHA:481
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
47,Xyy Syndrome	Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,...	ORPHA:8
Adrenal Hypoplasia, Congenital	Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty	OMIM:300200
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Myotonic Dystrophy 2	Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:602668
Functioning Gonadotropic Adenoma	Oligospermia, Abnormal prolactin level, Infertility, Macroorchidism, postpubertal, Adrenocorticot...	ORPHA:91348
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Premature Ovarian Failure 10	Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr...	OMIM:612885
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Pituitary Dermoid And Epidermoid Cysts	Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor...	ORPHA:91351
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia	ORPHA:2578
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia	ORPHA:2183
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Hypogonadism-Cataract Syndrome	Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona...	OMIM:240950
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia	OMIM:602390
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff...	OMIM:228300
Diamond-Blackfan Anemia 3	Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F	OMIM:610629
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp...	ORPHA:752
Spermatogenic Failure 15	Non-obstructive azoospermia	OMIM:616950
Alpha-Thalassemia	Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia	ORPHA:846
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo...	OMIM:264300
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo...	ORPHA:261519
Partial Androgen Insensitivity Syndrome	Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos...	ORPHA:90797
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Hypoplasia of the uterus, Azoospermia	OMIM:601076
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st...	OMIM:308700
Lead Poisoning	Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ...	ORPHA:330015
46,Xy Partial Gonadal Dysgenesis	Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog...	ORPHA:251510
48,Xyyy Syndrome	Male hypogonadism, Azoospermia	ORPHA:99329
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production	OMIM:603529
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop...	ORPHA:280679
Generalized Glucocorticoid Resistance Syndrome	Oligospermia, Adrenal hyperplasia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseud...	ORPHA:786
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Ring Chromosome 21 Syndrome	Infertility, Amenorrhea, Azoospermia	ORPHA:1445
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypopl...	ORPHA:432
46,Xx Sex Reversal 1	Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon...	OMIM:400045
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop...	OMIM:300845
Complete Androgen Insensitivity Syndrome	Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian...	ORPHA:99429
Hereditary Amyloidosis With Primary Renal Involvement	Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility	ORPHA:85450
49,Xyyyy Syndrome	Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona...	ORPHA:99330
46,Xx Sex Reversal 2	True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope...	OMIM:278850
Gapo Syndrome	Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism, Umbilical hernia	ORPHA:2067
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c...	ORPHA:90793
Hemochromatosis, Type 1	Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Impotence	OMIM:235200
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor...	OMIM:308750
Sickle Cell Anemia	Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ...	ORPHA:232
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Oligospermia, Breast hypoplasia, Clitoral hypoplasia	OMIM:614813
Beta-Thalassemia	Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro...	ORPHA:848
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm	OMIM:614874
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypospadias, Azoospermia, Penoscrotal hypospadias, Ambiguous genitalia, female, Adrenocorticotrop...	ORPHA:90791
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis	OMIM:141700
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia	OMIM:618849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Azoospermia	ORPHA:300298
Classic Galactosemia	Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil...	ORPHA:79239
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon...	OMIM:613807
8P11.2 Deletion Syndrome	Azoospermia, Hypogonadotropic hypogonadism, Hypogonadism, Cryptorchidism, Hypoplasia of penis	ORPHA:251066
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis	OMIM:266140
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Bloom Syndrome	Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia	ORPHA:125
Aromatase Deficiency	Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe...	ORPHA:91
Bloom Syndrome	Decreased fertility in females, Cryptorchidism, Azoospermia	OMIM:210900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Incr...	ORPHA:2232
Carney Complex	Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi...	ORPHA:1359
Familial Glucocorticoid Deficiency	Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Cryptorchidism, Leydig cell neopl...	ORPHA:361
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Elevated circulating follicle...	ORPHA:95699
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni...	ORPHA:1772
Symptomatic Form Of Hemochromatosis Type 1	Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,...	ORPHA:465508
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the female genitalia, Abnormality of the male genitalia	ORPHA:228123
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Wolfram Syndrome 1	Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism	OMIM:222300
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Beta-Thalassemia Intermedia	Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hypogonadism, Hep...	ORPHA:231222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:157640
Aarskog-Scott Syndrome	Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating...	OMIM:305400
Tetrasomy 9P	Oligospermia, Infertility, Absent gallbladder, Micropenis, Cryptorchidism, Umbilical hernia	ORPHA:3310
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F	OMIM:612561
Woodhouse-Sakati Syndrome	Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se...	ORPHA:3464
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Beta-Thalassemia Major	Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy...	ORPHA:231214
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp...	ORPHA:231226
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Fanconi Anemia, Complementation Group A	Neutropenia, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotropic hypogonadis...	OMIM:227650
Diphallia	Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat...	ORPHA:227
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility	ORPHA:244
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:141750
Shwachman-Diamond Syndrome 1	Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy...	OMIM:260400
Thymoma	Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Blackfan-Diamond Anemia	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu...	ORPHA:124
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism	ORPHA:3063
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Steinert Myotonic Dystrophy	Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath...	ORPHA:273
Alström Syndrome	Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Decreased response to...	ORPHA:64
Cystinosis, Nephropathic	Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mellitus, Delayed puberty	OMIM:219800
Noonan Syndrome 1	Hypospadias, Cryptorchidism, Male infertility, Hypogonadism	OMIM:163950
Cystic Fibrosis	Male infertility	OMIM:219700

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 Ppp1cc

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 Ppp1cc.

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

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ppp1cc^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ppp1cc^{em1(IMPC)Wtsi} Ppp1cc^{em1(IMPC)Wtsi}	PMC6671969

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ppp1cc^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ppp1cc^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppp1cc^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppp1cc^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ppp1cc^{em2(IMPC)Wtsi}	Deletion	Mice
Ppp1cc^{em1(IMPC)Wtsi}	Deletion	Mice

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