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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
increased circulating cholesterol level Unc5clem1(IMPC)Mbp HOM Late adult 2.50×10-07
decreased locomotor activity Unc5clem1(IMPC)Mbp HOM Early adult 5.15×10-05
hyperactivity Unc5clem1(IMPC)Mbp HOM Early adult 3.17×10-05
anophthalmia Unc5clem1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Unc5clem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Unc5clem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin 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 Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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