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Gene: Ddb1 MGI:1202384

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Gene Summary

Name:
damage specific DNA binding protein 1
Synonyms:
DNA repair protein,  p127-Ddb1,  damage-specific DNA-binding protein, DNA repair

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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
enlarged urinary bladder Ddb1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal urinary bladder morphology Ddb1em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to organogenesis Ddb1em1(IMPC)Ccpcz HOM   E9.5 0.00
abnormal thymus morphology Ddb1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal auditory brainstem response Ddb1em1(IMPC)Ccpcz HET   Early adult 8.79×10-05
enlarged thymus Ddb1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Ddb1em1(IMPC)Ccpcz HET Early adult 0.00
hyperactivity Ddb1em1(IMPC)Ccpcz HET Early adult 2.82×10-05

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

30 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Human diseases caused by Ddb1 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 Ddb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Low-set ears, Attention deficit hyperactivity disorder, Macrotia, ... OMIM:619426

The table below shows human diseases predicted to be associated to Ddb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
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
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, EEG abnormality, Prolinuria, Hydroxyprolinur... OMIM:239500
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Anemia OMIM:238700
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia OMIM:617113
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... OMIM:619827
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria OMIM:605899
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, EEG with gener... ORPHA:163681
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Hearing impairment OMIM:252900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Urinary incontinence,... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level... ORPHA:8
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Autoimmune thrombocytopenia, Sensorineural hearing im... ORPHA:760
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Hepatomegaly, Proteinuria, Cryptorchidi... ORPHA:90321
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment... ORPHA:79330
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
EEG with burst suppression, Thymus hyperplasia, Hypsarrhythmia OMIM:619036
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Low-set ... ORPHA:401973
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:133540
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:216400
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Hyperactivity, Agitation, Thyroid hyperplasia ORPHA:424
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R... ORPHA:744
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Low-set ears, Attention deficit hyperactivity disorder, Macrotia, ... OMIM:619426

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 Ddb1

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 Ddb1.

No publications found that use IMPC mice or data for Ddb1.

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
Ddb1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ddb1em1(IMPC)Ccpcz Exon Deletion Mice

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