Gene Summary

Name:
centrosome and spindle pole associated protein 1
Synonyms:
2310020J12Rik,  4930413O22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vocalization Cspp1em1(IMPC)J HOM Early adult 4.45×10-09
abnormal locomotor behavior Cspp1em1(IMPC)J HOM Early adult 8.92×10-05
decreased bone mineral content Cspp1em1(IMPC)J HOM   Early adult 2.69×10-05
decreased circulating creatinine level Cspp1em1(IMPC)J HOM Early adult 1.75×10-08
abnormal coat/hair pigmentation Cspp1em1(IMPC)J HOM Early adult 1.06×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Cspp1 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 Cspp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome
Highly arched eyebrow, Ataxia, Gait disturbance ORPHA:475
Joubert Syndrome 21
Ataxia OMIM:615636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Early ossification of capital femoral epiphyses ORPHA:397715
Meckel Syndrome
ORPHA:564

The table below shows human diseases predicted to be associated to Cspp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Coarse metaphyseal trabecularization, Macular hyperpigmented dermopathy ORPHA:2779
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Fair hair, Gait ataxia OMIM:618808
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... OMIM:256710
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Ataxia, Partial alb... ORPHA:79476
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... OMIM:277580
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Elevated circula... OMIM:620366
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair, Aminoaciduria OMIM:250900
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Osteomalacia, Hypokalemia OMIM:179800
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:411515
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Gait disturbanc... ORPHA:100
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Obesity And Hypopigmentation
Red hair OMIM:620195
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Multiple lentigines, Silver-gray hair, Waddling gait, Vitiligo ORPHA:101003
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Hypopigmentation of hair ORPHA:70472
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Advanced ossification of carpal bones, Red hair, Fair hair OMIM:614613
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... OMIM:618156
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:98795
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Osteopetrosis, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:411511
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Supernumerary nipple OMIM:614376
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair, Coronal craniosynost... ORPHA:53271
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Ataxia, Generalized hyperpigmentati... ORPHA:3322
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:98794
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Gait disturbance, Giant... OMIM:214500
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level, Long eyelashes OMIM:301110
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Brittle Cornea Syndrome
Gait disturbance, Abnormality of hair pigmentation, Osteoporosis ORPHA:90354
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Ch├ędiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentat... ORPHA:167
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteoporosis, Unconjugated hyperbilirubinemia ORPHA:232
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Athetosis, Iris hypopigmentation, Ataxia, Ocular albinism ORPHA:2719
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Generalized aminoaciduria, Reduced b... OMIM:219800
Hypomagnesemia 3, Renal
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... OMIM:248250
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... ORPHA:98754
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen... ORPHA:177901
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Degcags Syndrome
Premature graying of hair, Osteopenia, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eye... OMIM:619488
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Menkes Disease
Woolly hair, Osteoporosis, Hypopigmentation of hair, Sparse hair ORPHA:565
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Abnormality of retinal pigmentation, Aminoaciduria... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulat... OMIM:619534
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... ORPHA:818
Joubert Syndrome
Highly arched eyebrow, Ataxia, Gait disturbance ORPHA:475
Joubert Syndrome 21
Ataxia OMIM:615636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Early ossification of capital femoral epiphyses ORPHA:397715
Meckel Syndrome
ORPHA:564

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 Cspp1

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 Cspp1.

No publications found that use IMPC mice or data for Cspp1.

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
Cspp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cspp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cspp1em1(IMPC)J Exon Deletion Mice

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