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Gene: Casp2 MGI:97295

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Gene Summary

Name:
caspase 2
Synonyms:
Ich-1,  Nedd2,  Caspase-2

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
cataract Casp2em1(IMPC)Mbp HOM   Early adult 8.46×10-05
increased brain size Casp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Casp2em1(IMPC)Mbp HOM Early adult 0.00
increased startle reflex Casp2em1(IMPC)Mbp HOM   Early adult 8.27×10-05
abnormal testis morphology Casp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Casp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Casp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Casp2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Casp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Casp2em1(IMPC)Mbp HOM   Early adult 9.09×10-05
enlarged testis Casp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Casp2em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Casp2em1(IMPC)Mbp HOM Early adult 1.34×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Casp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Casp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Tremor, Choreoathetosis, High palate, Dystonia, Macroorchidism, Male hypogonadism... OMIM:300055
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Macroorchidism ORPHA:3077
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Fragile X Syndrome
Macroorchidism, Gastroesophageal reflux ORPHA:908
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow OMIM:300602
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Anal ... ORPHA:1381
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Lujan-Fryns Syndrome
Macroorchidism, High palate ORPHA:776
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft lip and palate, High palate, Macroorchidism, Ankyloglossia, Iris col... OMIM:618874
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High palate, Polycystic ovaries ORPHA:284180
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Hem... ORPHA:1473
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormality of the ureter, Ectopic anus, Multiple renal cysts, Macro... ORPHA:261318
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft palate, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Protruding tongue ORPHA:324410
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroeso... OMIM:608800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Chronic kidney di... ORPHA:3156
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Cleft palate ORPHA:90654
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, H... ORPHA:791
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Cataract, Retinal coloboma OMIM:601794
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, High palate OMIM:309520
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Tremor, Optic atrophy, Pigmentary retinopathy, Dysphag... OMIM:222300
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Micr... OMIM:610125
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Congenital Tufting Enteropathy
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... ORPHA:92050
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le... ORPHA:523
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Macroglossia, Macroorchidism, Thyroid hypoplasia, Increased circulating... ORPHA:90674
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Hydronephrosis OMIM:620327
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Cleft soft palate, Precocious puberty, High, narrow palate, Cleft palate, Unilateral renal hypopl... OMIM:619950
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Cataract, Intestinal pseudo-obstruction, Macular degeneration, Dysphagia OMIM:619780
Hyperekplexia 2
Exaggerated startle response, Astigmatism, Gastroesophageal reflux, Hiatus hernia OMIM:614619
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... ORPHA:1839
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Microcornea, High palate, Chorioretinal coloboma, Iris co... ORPHA:139471
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate,... ORPHA:3376
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Kapur-Toriello Syndrome
Cataract, Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Retinal... OMIM:244300
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, Testicu... ORPHA:744
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Esophageal stenosis, Vaginal neoplasm, Proteinuria, Hypoperistalsis, Keratitis, Esophag... ORPHA:1018
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Stromme Syndrome
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal malrotation, Bilatera... OMIM:243605
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Cleft palate, Pseudobulbar paral... OMIM:607371
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cowden Syndrome 5
Colonic diverticula, Cataract, Goiter, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hy... OMIM:615108
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Cowden Syndrome 6
Colonic diverticula, Cataract, Goiter, Furrowed tongue, Hamartomatous polyposis, Ovarian cyst, Hy... OMIM:615109
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... ORPHA:2714
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... OMIM:212550
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Cataract, Hypospadias, Sclerocornea, Ovotestis, Cleft palate, Anteriorly pl... OMIM:309801
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Cataract, Premature ovarian insufficiency, Female hypogon... OMIM:240300
Hyperekplexia 3
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia OMIM:614618
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Aspartylglucosaminuria
Macroorchidism, Macroglossia, Aspartylglucosaminuria, Cataract OMIM:208400
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... ORPHA:93932
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Aspartylglucosaminuria
Macroorchidism, Macroglossia, Aspartylglucosaminuria, Malabsorption ORPHA:93
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sclerocorne... OMIM:206900
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease... OMIM:308940
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Hy... OMIM:603671
Atelis Syndrome 2
High palate, Gastroesophageal reflux, Remnants of the hyaloid vascular system, Developmental cata... OMIM:620185
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia OMIM:253800
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, External genital hypoplasia, Cryptorchidism, Submucous cleft hard ... ORPHA:2250
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Gastroesophageal reflux OMIM:620114
Tay-Sachs Disease
Exaggerated startle response, Tremor, Precocious puberty, Optic atrophy, Dysphagia, Dystonia, Lar... ORPHA:845
Sandhoff Disease
Macroglossia, Exaggerated startle response, Urinary incontinence, Impotence OMIM:268800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, True hermaphroditism, Aplasia/Hypop... ORPHA:564
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, High palate, Truncal titubation OMIM:618056
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Primary ameno... OMIM:603457
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting... ORPHA:47159
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, High palate, Dystonia, Impaired oropharyngeal swallo... ORPHA:521426
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Dysphagia, Cortical cata... ORPHA:637
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, High palate, Dystonia ORPHA:438216
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Gastroesophageal reflux, Optic nerve hypoplasia OMIM:615574
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Short uvula, Lens coloboma, ... OMIM:619539
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Macroglossia, Urinary glycosaminoglycan excretion, Dystonia, Increa... ORPHA:79255
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Cystic Echinococcosis
Ovarian cyst, Renal cyst, Abnormality of the testis size, Membranous nephropathy ORPHA:400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Cryptorchidi... OMIM:619522
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... OMIM:157170
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia, Precocious puberty, Cryptorchidism, Ab... ORPHA:438213
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367

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 Casp2

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 Casp2.

No publications found that use IMPC mice or data for Casp2.

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MGI Allele Allele Type Produced
Casp2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Casp2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Casp2tm291688(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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