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Gene: Cabp2 MGI:1352749

Gene Summary

Name:

calcium binding protein 2

Synonyms:

N/A

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
abnormal coat/hair pigmentation	Cabp2^em1(IMPC)J	HOM	Early adult	7.09×10^-08
abnormal vocalization	Cabp2^em1(IMPC)J	HOM	Early adult	2.42×10^-10
decreased grip strength	Cabp2^em1(IMPC)J	HOM	Early adult	1.34×10^-05
abnormal auditory brainstem response	Cabp2^em1(IMPC)J	HOM	Early adult	3.37×10^-13
decreased startle reflex	Cabp2^em1(IMPC)J	HOM	Early adult	2.16×10^-08

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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.

Auditory Brain Stem Response

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

9 Images

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Human diseases caused by Cabp2 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 Cabp2 (1 diseases)
Human diseases predicted to be associated with Cabp2 (202 diseases)

The table below shows human diseases associated to Cabp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Deafness, Autosomal Recessive 93		Hearing impairment	OMIM:614899

The table below shows human diseases predicted to be associated to Cabp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Waardenburg Syndrome, Type 2B	Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis	OMIM:600193
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Deafness, Autosomal Recessive 93	Hearing impairment	OMIM:614899
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri...	OMIM:613265
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin...	OMIM:600501
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ...	ORPHA:895
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Athetosis, Hypopigmentation of the skin	OMIM:257800
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis, Tremor	ORPHA:66633
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa...	OMIM:193510
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying...	ORPHA:33445
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme...	OMIM:601706
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri...	OMIM:277580
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba...	ORPHA:2884
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo...	ORPHA:894
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Hearing impairment	OMIM:172850
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu...	ORPHA:3437
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Optic Atrophy 5	Abnormality of pattern visual evoked potentials	OMIM:610708
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh...	OMIM:172800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Multifocal epileptiform discharges, EEG with abno...	ORPHA:70472
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Obesity And Hypopigmentation	Red hair	OMIM:620195
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia	ORPHA:3240
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg...	OMIM:609136
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Tremor, Multiple cafe-au-lait spots	ORPHA:100
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L...	ORPHA:79330
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, EEG with focal epileptiform discharges, EEG abnormality, Hypopigmentati...	ORPHA:98795
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri...	OMIM:613266
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Classic Phenylketonuria	Tremor, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ...	ORPHA:3214
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Squalene Synthase Deficiency	Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of hair pigmentation, Low-set ears,...	OMIM:618156
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, EEG with abnormally slow frequencies, Tremor, EEG abnormality, Hypopigm...	ORPHA:98794
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Tremor, Optic atrophy, Pigmentary ret...	ORPHA:90321
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Canavan Disease	Abnormality of visual evoked potentials	ORPHA:141
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus, Vitiligo	OMIM:184850
Angelman Syndrome Due To A Point Mutation	EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Cockayne Syndrome B	Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog...	OMIM:133540
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Tremor, Ocular a...	OMIM:214500
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Posteriorly rotated ears, Low-set ears	OMIM:618598
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy, EEG abnormality, Long eyelashes, Macrotia, Thick eye...	OMIM:617281
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Hearing impairment	OMIM:620114
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Cockayne Syndrome A	Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials	ORPHA:1933
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity	OMIM:617864
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Brittle Cornea Syndrome 1	Red hair, Hearing impairment	OMIM:229200
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment...	ORPHA:521426
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas...	ORPHA:909
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials	ORPHA:2971
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment	OMIM:620327
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials	ORPHA:96
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Neurodegeneration With Brain Iron Accumulation 2A	Abnormality of visual evoked potentials	OMIM:256600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Long eyelashes, Low-set ears	OMIM:617301
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hirsutism, Hearing impairment	ORPHA:79255
Mepan Syndrome	Abnormality of visual evoked potentials	ORPHA:508093
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, EEG abnormality, Ath...	ORPHA:2719
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Abnormality of visual evoked potentials	OMIM:601152
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials	ORPHA:168491
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr...	OMIM:615574
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials	ORPHA:314389
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Hirsutism	OMIM:617527
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials	OMIM:616875
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Exaggerated startle response, Dystonia	ORPHA:438216
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials	ORPHA:702
Tay-Sachs Disease	Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dystonia, Hearing impair...	ORPHA:845
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Sensorineural heari...	ORPHA:163746
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Brittle Cornea Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation	ORPHA:90354
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Koolen-De Vries Syndrome	Hypopigmentation of hair, Protruding ear, Overfolded helix, Abnormality of hair texture	ORPHA:96169
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials	OMIM:125310
Infantile Neuroaxonal Dystrophy	Abnormality of visual evoked potentials	ORPHA:35069
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response	OMIM:268800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit...	ORPHA:167
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials	ORPHA:480898
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of visual evoked potentials	ORPHA:485421
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold...	ORPHA:1974
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
White-Sutton Syndrome	Abnormality of visual evoked potentials	OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy	OMIM:253800
Friedreich Ataxia	Abnormality of visual evoked potentials	OMIM:229300
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr...	ORPHA:84064
Micro Syndrome	Abnormality of visual evoked potentials	ORPHA:2510
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Thick eyebrow, EEG with generalized slow activity	OMIM:618367
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials	OMIM:231550
Vici Syndrome	Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Low-set ea...	OMIM:242840
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Metachromatic Leukodystrophy, Late Infantile Form	Abnormality of visual evoked potentials	ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form	Abnormality of visual evoked potentials	ORPHA:309263
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Hearing impairme...	OMIM:619488
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Metachromatic Leukodystrophy, Adult Form	Abnormality of visual evoked potentials	ORPHA:309271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials	ORPHA:258
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyel...	ORPHA:818
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials	ORPHA:512
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials	OMIM:203700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, High anterior hairline, Exaggerated startle response, Dystonia	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Hypoplastic toenails, Microtia, Low-set e...	OMIM:619522
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials	ORPHA:667

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 Cabp2

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 Cabp2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells.	Proceedings of the National Academy of Sciences of the United States of America (February 2017)	Cabp2^{tm1a(KOMP)Mbp} Cabp2^{tm1b(KOMP)Mbp}	PMC5338518

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
Cabp2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cabp2^em1(IMPC)J	Exon Deletion	Mice
Cabp2^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cabp2^{tm92183(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cabp2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Cabp2^{tm2e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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