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Gene: Unc5cl MGI:1923839

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Gene Summary

Name:
unc-5 family C-terminal like
Synonyms:
2510009H09Rik

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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
abnormal eye morphology Unc5clem1(IMPC)Mbp HOM Late adult 0.00
decreased locomotor activity Unc5clem1(IMPC)Mbp HOM Early adult 4.87×10-05
increased circulating cholesterol level Unc5clem1(IMPC)Mbp HOM Late adult 2.50×10-07
hyperactivity Unc5clem1(IMPC)Mbp HOM Early adult 3.06×10-05
anophthalmia Unc5clem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Unc5clem1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Unc5clem1(IMPC)Mbp HOM Late adult 0.00

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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 Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Unc5cl 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 Unc5cl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Dysphagia, Gait disturbance ORPHA:228169
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Fryns Microphthalmia Syndrome
Unicornuate uterus, Microphthalmia, Anophthalmia OMIM:600776
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Motor stereotypy, Broad-based gait OMIM:619470
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Anencephaly 2
Anophthalmia OMIM:619452
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity... OMIM:619827
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Matthew-Wood Syndrome
Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o... ORPHA:2470
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Trisomy 13
Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris... ORPHA:3378
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Gait ataxia, Ataxia ORPHA:248111
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:77298
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Temple Syndrome
Hypertriglyceridemia, Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholest... OMIM:616222
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ... OMIM:610644
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia ORPHA:254531
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Precocious puberty in females, Increased C-peptide le... ORPHA:528
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Vaginal atresia, Anophthalmia OMIM:248450
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia ORPHA:411515
Solitary Median Maxillary Central Incisor
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... OMIM:147250
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shuffling gait, Aggres... ORPHA:3077
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Walker-Warburg Syndrome
Microphthalmia, Abnormal circulating creatine kinase concentration, Hypoplasia of penis, Anophtha... ORPHA:899
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Cockayne Syndrome Type 2
Cryptorchidism, Male hypogonadism, Anophthalmia ORPHA:90322
Trisomy 1Q
Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia ORPHA:261344
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia, Hypergonadotrop... ORPHA:79237
Microphthalmia With Limb Anomalies
Microphthalmia, Unilateral cryptorchidism, Anophthalmia OMIM:206920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Hypercholesterolemia ORPHA:96184
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Burkitt Lymphoma
Abnormality of the ovary, Hyperuricemia ORPHA:543
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ... ORPHA:209902
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry... ORPHA:2250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia, Abnormal... ORPHA:2457
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Bile duct proliferation, Elevated circulating alpha-feto... OMIM:619662
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Cryptorchidism, Male hypogonadism, Anophthalmia ORPHA:90321
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Hypercholesterolemia ORPHA:819
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:79240
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo... OMIM:176270
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, Polycyst... OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, N... ORPHA:90674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Elevated circulating creatine kin... ORPHA:264580
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypoplasia of the iris ORPHA:2479
Meckel Syndrome
Microphthalmia, Anophthalmia, Male pseudohermaphroditism, True hermaphroditism, Cryptorchidism, A... ORPHA:564
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Hypoplasia of penis, Panhypopituitarism, ... ORPHA:2162
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Neuhauser Syndrome
Hypercholesterolemia, Hypoplasia of the iris OMIM:249310
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia, Small scrotum, Cryptorchidism ORPHA:264200
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia ORPHA:90065
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia ORPHA:2538
Histidinemia
Hyperactivity ORPHA:2157
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia OMIM:605627
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia, Bilateral cryptorchidism, Micropenis OMIM:619471
Fibular Hemimelia
Anophthalmia ORPHA:93323
Fraser Syndrome 1
Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Anophthalmia, Bicornuate uterus, Vag... OMIM:219000
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Fraser Syndrome
Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor... ORPHA:2052
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Cholelithiasis ORPHA:69663
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Dysdiadochokinesis, Impulsivity, Gait ataxia, Dysphagia, Dysmetria OMIM:610217
Charge Syndrome
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid scrotum, Abnorma... ORPHA:138
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Polycystic ovaries, Hypercholes... ORPHA:79259
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Hypoplasminogenemia
Cervicitis, Abnormal fallopian tube morphology, Decreased level of plasminogen, Abnormality of th... ORPHA:722
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Hypokalemia, Azoospermia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hyp... ORPHA:534
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Septate vagina, Cryptorchidism OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas... OMIM:305600
Charge Syndrome
Microphthalmia, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Extern... OMIM:214800
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia ORPHA:141099
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Joubert Syndrome 21
Anophthalmia OMIM:615636
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Microphthalmia, Elevated circulating creatine kinase concentration, Elevated amni... OMIM:309000
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Increase... ORPHA:95699
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Cholelithiasis, Hypergonadotropic hypogona... ORPHA:273
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Obsessive-compulsive trait, Akinesia, Hyperactivity, Gait disturbance, Phonic tics,... OMIM:234200
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Small scrotum, Crypt... OMIM:607932
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Vaginal atresia, Hypogonadism, Micropenis OMIM:209900
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Cryptorchidism, Supernumerary nipple OMIM:113620
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct proliferation, Conjugated hyperbilir... OMIM:619534
Microphthalmia, Syndromic 1
Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia OMIM:309800
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99226

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 Unc5cl

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 Unc5cl.

No publications found that use IMPC mice or data for Unc5cl.

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
Unc5cltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Unc5clem1(IMPC)Mbp Exon Deletion Mice, Tissue
Unc5cltm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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