Gene: Ublcp1 MGI:1933105

Log in to follow

Gene Summary

Name:
ubiquitin-like domain containing CTD phosphatase 1
Synonyms:
8430435I17Rik,  4930527B16Rik

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
unresponsive to tactile stimuli Ublcp1tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Ublcp1tm1b(KOMP)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Ublcp1tm1b(KOMP)Wtsi HOM   Early adult 0.00
tremors Ublcp1tm1b(KOMP)Wtsi HET Early adult 5.35×10-07
unresponsive to tactile stimuli Ublcp1tm1b(KOMP)Wtsi HET E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)
N/A heterozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

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 Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

16 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Ublcp1 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 Ublcp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
ORPHA:238606
Tremor, Hereditary Essential, 1
OMIM:190300
Tremor, Hereditary Essential, 6
OMIM:618866
Tremor, Hereditary Essential, 5
OMIM:616736
Tremor, Hereditary Essential, 4
OMIM:614782
Glutathionuria
OMIM:231950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
OMIM:613227
Optic Atrophy 2
OMIM:311050
Spinocerebellar Ataxia Type 15/16
ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
OMIM:610297
Episodic Ataxia, Type 1
OMIM:160120
Parkinsonism With Spasticity, X-Linked
OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
OMIM:607688
Episodic Ataxia With Slurred Speech
ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
OMIM:309560
Dystonia 3, Torsion, X-Linked
OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 71
ORPHA:401840
Tremor, Hereditary Essential, 2
OMIM:602134
Mental Retardation, Autosomal Recessive 6
OMIM:611092
Spinocerebellar Ataxia 20
OMIM:608687
Cerebellar Ataxia And Albinism
OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
OMIM:213000
Developmental And Epileptic Encephalopathy 32
OMIM:616366
Neuronopathy, Distal Hereditary Motor, Type Viia
OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
OMIM:300703
Episodic Ataxia, Type 8
OMIM:616055
Parkinson Disease 17
OMIM:614203
Epilepsy, Progressive Myoclonic 7
OMIM:616187
Spinocerebellar Ataxia Type 31
ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
OMIM:616921
Paralysis Agitans, Juvenile, Of Hunt
OMIM:168100
Episodic Kinesigenic Dyskinesia 2
OMIM:611031
X-Linked Spinocerebellar Ataxia Type 4
ORPHA:85292
Epilepsy, Progressive Myoclonic, 1B
OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
OMIM:611808
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
OMIM:611105
Spinocerebellar Ataxia 43
OMIM:617018
Spinocerebellar Ataxia 37
OMIM:615945
Spastic Paraparesis And Deafness
OMIM:312910
Leukoencephalopathy, Brain Calcifications, And Cysts
OMIM:614561
Mental Retardation, Autosomal Dominant 55, With Seizures
OMIM:617831
Hyperphenylalaninemia, Bh4-Deficient, D
OMIM:264070
Myoclonic-Atonic Epilepsy
OMIM:616421
Progressive Myoclonic Epilepsy Type 1
ORPHA:308
Parkinson Disease 15, Autosomal Recessive Early-Onset
OMIM:260300
Segawa Syndrome, Autosomal Recessive
OMIM:605407
Dystonia 27
OMIM:616411
Spastic Ataxia 2, Autosomal Recessive
OMIM:611302
Parkinson Disease 22, Autosomal Dominant
OMIM:616710
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
ORPHA:2589
Spinocerebellar Ataxia Type 20
ORPHA:101110
Spinocerebellar Ataxia, X-Linked 4
OMIM:301840
Chorea, Benign Familial
OMIM:215450
Leukodystrophy, Hypomyelinating, 11
OMIM:616494
Lichtenstein-Knorr Syndrome
OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
ORPHA:401901
Leukoencephalopathy with metaphyseal chondrodysplasia
OMIM:300660
Epilepsy, Familial Adult Myoclonic, 4
OMIM:615127
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
OMIM:614369
Spinocerebellar Ataxia Type 38
ORPHA:423296
Spinocerebellar Ataxia, X-Linked 1
OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 70
ORPHA:401835
Parkinson Disease 19A, Juvenile-Onset
OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 17
OMIM:616127
Optic Atrophy 3, Autosomal Dominant
OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile
OMIM:600116
Chorea, Childhood-Onset, With Psychomotor Retardation
OMIM:616939
Parkinson Disease 21
OMIM:616361
Spinocerebellar Ataxia Type 12
ORPHA:98762
Spinocerebellar Ataxia 18
OMIM:607458
Neurodegeneration With Brain Iron Accumulation 8
OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 4
OMIM:607317
Spinocerebellar Ataxia Type 35
ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency
OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
OMIM:615362
X-Linked Non Progressive Cerebellar Ataxia
ORPHA:314978
Adult Neuronal Ceroid Lipofuscinosis
ORPHA:79262
Parkinson Disease 7, Autosomal Recessive Early-Onset
OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 10
OMIM:613728
Dystonia, Dopa-Responsive
OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
OMIM:270500
Migraine, Familial Hemiplegic, 1
OMIM:141500
Epilepsy, Familial Adult Myoclonic, 5
OMIM:615400
Dystonia 16
ORPHA:210571
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
OMIM:614251
Dystonia 11, Myoclonic
OMIM:159900
Primary Dystonia, Dyt13 Type
ORPHA:98807
Spinocerebellar Ataxia 23
OMIM:610245
Dystonia 24
OMIM:615034
Spinocerebellar Ataxia 19
OMIM:607346
Monomelic Amyotrophy
ORPHA:65684
Leukoencephalopathy, Progressive, With Ovarian Failure
OMIM:615889
Anemia, Sideroblastic, And Spinocerebellar Ataxia
OMIM:301310
Spinocerebellar Ataxia Type 37
ORPHA:363710
Spinal Muscular Atrophy, Jokela Type
OMIM:615048
Spastic Paraplegia 6, Autosomal Dominant
OMIM:600363
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
ORPHA:314632
Spinocerebellar Ataxia 40
OMIM:616053
Spinocerebellar Ataxia Type 14
ORPHA:98763
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
OMIM:619099
Autosomal Dominant Spastic Ataxia Type 1
ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
OMIM:300423
Behr Syndrome
OMIM:210000
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
ORPHA:420485
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
OMIM:617862
Spinocerebellar Ataxia 12
OMIM:604326
Dystonia 2, Torsion, Autosomal Recessive
OMIM:224500
Benign Adult Familial Myoclonic Epilepsy
ORPHA:86814
Spinocerebellar Ataxia 15
OMIM:606658
Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM:605909
Spinocerebellar Ataxia, Autosomal Recessive 2
OMIM:213200
X-Linked Parkinsonism-Spasticity Syndrome
ORPHA:363654
Primary Dystonia, Dyt27 Type
ORPHA:464440
Xeroderma Pigmentosum, Complementation Group G
OMIM:278780
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
OMIM:609153
Encephalopathy, Recurrent, Of Childhood
OMIM:130950
Parkinson-Dementia Syndrome
OMIM:260540
Corticobasal Syndrome
ORPHA:454887
Hypermanganesemia With Dystonia 2
OMIM:617013
Parkinson Disease 14, Autosomal Recessive
OMIM:612953
Epilepsy, Progressive Myoclonic, 6
OMIM:614018
Progressive Supranuclear Palsy-Corticobasal Syndrome
ORPHA:240103
Coenzyme Q10 Deficiency, Primary, 4
OMIM:612016
Parkinsonism-Dystonia, Infantile, 1
OMIM:613135
Spinocerebellar Ataxia 7
OMIM:164500
Hyperphenylalaninemia, Bh4-Deficient, C
OMIM:261630
Tremor, Nystagmus, And Duodenal Ulcer
OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive 21
OMIM:616719
Urocanic Aciduria
ORPHA:210128
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
ORPHA:521406
Atypical Pantothenate Kinase-Associated Neurodegeneration
ORPHA:216873
Cataract-Ataxia-Deafness Syndrome
ORPHA:1368
Urocanase Deficiency
OMIM:276880
Epilepsy, Familial Adult Myoclonic, 1
OMIM:601068
Coenzyme Q10 Deficiency, Primary, 9
OMIM:619028
Parkinsonism With Polyneuropathy
OMIM:619279
Epilepsy, Familial Adult Myoclonic, 3
OMIM:613608
Autosomal Spastic Paraplegia Type 58
ORPHA:397946
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
OMIM:608105
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
ORPHA:66633
Myopathy With Extrapyramidal Signs
OMIM:615673
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
OMIM:618170
Neurodegeneration With Brain Iron Accumulation 5
OMIM:300894
Primary Dystonia, Dyt2 Type
ORPHA:99657
Glut1 Deficiency Syndrome 2
OMIM:612126
Aicardi-Goutieres Syndrome 6
OMIM:615010
Cyanide-Induced Parkinsonism-Dystonia
ORPHA:306692
Huntington Disease-Like 2
OMIM:606438
Basal Ganglia Calcification, Idiopathic, 1
OMIM:213600
Spinocerebellar Ataxia 48
OMIM:618093
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
OMIM:618090
Hyperphenylalaninemia, Bh4-Deficient, A
OMIM:261640
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
OMIM:254900
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
OMIM:618587
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
OMIM:618387
Combined Oxidative Phosphorylation Deficiency 45
OMIM:618951
Familial Dyskinesia And Facial Myokymia
ORPHA:324588
Developmental Delay And Seizures With Or Without Movement Abnormalities
OMIM:617836
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
OMIM:612716
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
OMIM:617145
Spinocerebellar Ataxia Type 21
ORPHA:98773
Oculopharyngeal Myopathy With Leukoencephalopathy 1
OMIM:618637
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
OMIM:159950
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
OMIM:176500
Neuroectodermal Melanolysosomal Disease
ORPHA:33445
Charcot-Marie-Tooth Disease, Axonal, Type 2X
OMIM:616668
Intellectual Developmental Disorder, X-Linked 104
OMIM:300983
X-Linked Charcot-Marie-Tooth Disease Type 1
ORPHA:101075
Combined Oxidative Phosphorylation Deficiency 15
OMIM:614947
Lower Motor Neuron Syndrome With Late-Adult Onset
ORPHA:276435
Cystathioninuria
ORPHA:212
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
OMIM:615157
Leukodystrophy, Hypomyelinating, 6
OMIM:612438
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
OMIM:618877
Dystonia 13, Torsion, Autosomal Dominant
OMIM:607671
Spinocerebellar Ataxia 8
OMIM:608768
Lopes-Maciel-Rodan Syndrome
OMIM:617435
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
ORPHA:139485
Parkinson Disease 8, Autosomal Dominant
OMIM:607060
Dyskinesia, Familial, With Facial Myokymia
OMIM:606703
Myopathy, Spheroid Body
OMIM:182920
Neurodegeneration With Brain Iron Accumulation 3
OMIM:606159
Atypical Progressive Supranuclear Palsy Syndrome
ORPHA:99750
Beta-Propeller Protein-Associated Neurodegeneration
ORPHA:329284
Progressive Supranuclear Palsy-Parkinsonism Syndrome
ORPHA:240085
Infantile Neuronal Ceroid Lipofuscinosis
ORPHA:79263
Hsd10 Disease
ORPHA:391417
X-Linked Dystonia-Parkinsonism
ORPHA:53351
X-Linked Charcot-Marie-Tooth Disease Type 4
ORPHA:101078
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
OMIM:609260
Spinocerebellar Ataxia 42
OMIM:616795
Dystonia 7, Torsion
OMIM:602124
Glycosylphosphatidylinositol Biosynthesis Defect 15
OMIM:617810
Spinocerebellar Ataxia 2
OMIM:183090
Atypical Juvenile Parkinsonism
ORPHA:391411
Intellectual Developmental Disorder, X-Linked, Syndromic 13
OMIM:300055
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
ORPHA:1170
Hemiparkinsonism-Hemiatrophy Syndrome
ORPHA:306669
Kufor-Rakeb Syndrome
OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 13
OMIM:614831
Spastic Paraplegia 9B, Autosomal Recessive
OMIM:616586
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
ORPHA:2590
Perry Syndrome
ORPHA:178509
Hyperphenylalaninemia, Bh4-Deficient, B
OMIM:233910
Atypical Rett Syndrome
ORPHA:3095
Developmental And Epileptic Encephalopathy 42
OMIM:617106
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
OMIM:610185
Dentatorubral Pallidoluysian Atrophy
ORPHA:101
Gerstmann-Straussler Disease
OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 5
ORPHA:99014
Spinocerebellar Ataxia Type 27
ORPHA:98764
Crigler-Najjar Syndrome Type 1
ORPHA:79234
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
OMIM:619092
Autosomal Dominant Cerebellar Ataxia
ORPHA:99
Epilepsy, Familial Adult Myoclonic, 2
OMIM:607876
Spinal And Bulbar Muscular Atrophy, X-Linked 1
OMIM:313200
Multiple System Atrophy
ORPHA:102
Inherited Creutzfeldt-Jakob Disease
ORPHA:282166
Hypermanganesemia With Dystonia 1
OMIM:613280
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
OMIM:302800
Ataxia With Vitamin E Deficiency
ORPHA:96
Sneddon Syndrome
ORPHA:820
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
OMIM:208920
Combined Oxidative Phosphorylation Deficiency 18
OMIM:615578
Peroxisome Biogenesis Disorder 5B
OMIM:614867
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
ORPHA:477673
Parkinson Disease 20, Early-Onset
OMIM:615530
4H Leukodystrophy
ORPHA:289494
Neuronal Intranuclear Inclusion Disease
OMIM:603472
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
ORPHA:137898
Severe Neurodegenerative Syndrome With Lipodystrophy
ORPHA:363400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
ORPHA:70594
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
OMIM:607483
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
OMIM:618060
Waisman Syndrome
OMIM:311510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
ORPHA:3077
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
OMIM:618718
Cln5 Disease
ORPHA:228360
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
ORPHA:529665
Pelizaeus-Merzbacher Disease
OMIM:312080
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
OMIM:616505
Sneddon Syndrome
OMIM:182410
O'Sullivan-Mcleod Syndrome
ORPHA:99965
Dystonia 1, Torsion, Autosomal Dominant
OMIM:128100
Amish Nemaline Myopathy
ORPHA:98902
Parkinsonism-Dystonia, Infantile, 2
OMIM:618049
Late-Infantile/Juvenile Krabbe Disease
ORPHA:206443
Generalized Epilepsy With Febrile Seizures-Plus
ORPHA:36387
Sporadic Adult-Onset Ataxia Of Unknown Etiology
ORPHA:247234
Congenital Bile Acid Synthesis Defect Type 4
ORPHA:79095
Spontaneous Periodic Hypothermia
ORPHA:29822
Nipah Virus Disease
ORPHA:99825
Mohr-Tranebjaerg Syndrome
OMIM:304700
Brain Dopamine-Serotonin Vesicular Transport Disease
ORPHA:352649
Pyruvate Dehydrogenase Deficiency
ORPHA:765
Non-Specific Early-Onset Epileptic Encephalopathy
ORPHA:442835
Parkinson Disease 23, Autosomal Recessive Early-Onset
OMIM:616840
Classic Progressive Supranuclear Palsy Syndrome
ORPHA:240071
Parkinson Disease, Late-Onset
OMIM:168600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
OMIM:618056
Developmental And Epileptic Encephalopathy 4
OMIM:612164
Adult-Onset Autosomal Dominant Leukodystrophy
ORPHA:99027
Nemaline Myopathy 5
OMIM:605355
Classic Phenylketonuria
ORPHA:79254
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
ORPHA:83629
Amyloidosis, Hereditary, Transthyretin-Related
OMIM:105210
Aceruloplasminemia
ORPHA:48818
Tetanus
ORPHA:3299
Adult-Onset Dystonia-Parkinsonism
ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
OMIM:606002
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
ORPHA:1578
Perry Syndrome
OMIM:168605
Progressive Supranuclear Palsy
ORPHA:683
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
OMIM:617186
Multiple System Atrophy 1, Susceptibility To
OMIM:146500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
ORPHA:713
Neurodegeneration With Brain Iron Accumulation 4
OMIM:614298
Tay-Sachs Disease
ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A
ORPHA:447753
Serotonin Syndrome
ORPHA:43116
Tyrosinemia Type 2
ORPHA:28378
Glutaryl-Coa Dehydrogenase Deficiency
ORPHA:25
Alternating Hemiplegia Of Childhood
ORPHA:2131
Supranuclear Palsy, Progressive, 1
OMIM:601104

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 Ublcp1

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 Ublcp1.

No publications found that use IMPC mice or data for Ublcp1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Ublcp1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Ublcp1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter