Gene Summary

Name:
LIM homeobox protein 1
Synonyms:
Lim1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
decreased circulating alkaline phosphatase level Lhx1tm1e(EUCOMM)Wtsi HET Early adult 4.59×10-05
increased startle reflex Lhx1tm1e(EUCOMM)Wtsi HET   Early adult 4.15×10-06
increased CD8-positive, alpha-beta T cell number Lhx1tm1e(EUCOMM)Wtsi HET   Early adult 6.38×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lhx1 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 Lhx1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Shawl scrotum, Ureterocele, Multicystic kidney dysplasi... ORPHA:261265

The table below shows human diseases predicted to be associated to Lhx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Elevated circulating luteinizing hormon... ORPHA:90797
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Leopard Syndrome 1
Unilateral renal agenesis, Cryptorchidism, Micropenis, Aplasia of the ovary, Spina bifida occulta... OMIM:151100
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Abnorma... ORPHA:280195
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Cryptorchidism, Non-obstructive azoospermia, Aplasia/hypoplasia of the ute... ORPHA:2232
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Renal Hypoplasia
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... ORPHA:93101
Urofacial Syndrome 1
Cryptorchidism, Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infection... OMIM:236730
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Penoscrotal Transposition
Renal agenesis, Abnormality of the ureter, Shawl scrotum, Abnormal external genitalia, Renal dysp... ORPHA:2842
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Occipital encephalocele, Anencephaly, Molar tooth sign on MRI, Hypospadias OMIM:614175
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
Limb-Mammary Syndrome
Aplasia of the uterus, Absent nipple, Aplasia of the ovary, Hypoplastic nipples, Breast aplasia, ... ORPHA:69085
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1046
Prune Belly Syndrome
Abnormality of the ureter, Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Multic... ORPHA:2970
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Meckel Syndrome, Type 4
Hydrocephalus, Renal cyst, Intrauterine growth retardation, Bile duct proliferation, Anencephaly,... OMIM:611134
46,Xy Ovotesticular Disorder Of Sex Development
Abnormality of the clitoris, Abnormality of the female genitalia, Perineal hypospadias, Ovotestis... ORPHA:325345
Bladder Exstrophy
Abnormality of the clitoris, Abnormality of the ureter, Bladder exstrophy, Hypoplasia of penis, R... ORPHA:93930
Joubert Syndrome 7
Abnormal corpus callosum morphology, Renal cyst, Molar tooth sign on MRI, Hypoplasia of the brain... OMIM:611560
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Cryptorchidism, Uterus didelphys, Renal hypoplas... ORPHA:1756
Joubert Syndrome 16
Nephronophthisis, Molar tooth sign on MRI, Renal cyst, Encephalocele OMIM:614465
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Ureteral duplication, Cryptorchidism, ... ORPHA:3027
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal internal genitalia, Multicystic kidney dysplas... ORPHA:2973
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2547
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Silver-Russell Syndrome 1
Abnormality of the ureter, Testicular seminoma, Congenital posterior urethral valve, Nephroblasto... OMIM:180860
Joubert Syndrome 2
Abnormal corpus callosum morphology, Renal cyst, Thickened superior cerebellar peduncle, Molar to... OMIM:608091
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Intrauterine growth retardation, ... ORPHA:356961
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Abnormality of the ureter, Hypoplasia of penis, Hypogonadism ORPHA:3409
Frasier Syndrome
Nephrotic syndrome, Proteinuria, Gonadal dysgenesis with female appearance, male, Gonadoblastoma,... ORPHA:347
Joubert Syndrome 9
Molar tooth sign on MRI, Stage 5 chronic kidney disease, Encephalocele OMIM:612285
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Proteinuria, Aplasia/hypoplasia of the uterus, Bilater... ORPHA:411709
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labia morphology, Elevat... ORPHA:251510
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Joubert Syndrome 4
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe... OMIM:609583
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:612885
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Gonadal dysgenesis, Polycystic ovaries, Renal hypoplasia/aplasia ORPHA:1770
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephropath... OMIM:194072
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Bladder fistula, Cryptorchidism, Renal ... ORPHA:322
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Hypoplasia of... OMIM:618841
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Ovarian cyst, Death in infancy, Bicornuate uterus OMIM:268650
Joubert Syndrome 22
Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of the corpus callosum OMIM:615665
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Prune Belly Syndrome
Cryptorchidism, Hydronephrosis, Congenital posterior urethral valve, Hydroureter, Urethral valve OMIM:100100
Cloacal Exstrophy
Abnormality of the clitoris, Ectopic kidney, Horseshoe kidney, Renal hypoplasia/aplasia, Bladder ... ORPHA:93929
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Molar tooth sign on MRI, Nephronophthisis OMIM:614464
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
Trisomy 13
Abnormality of the ureter, Abnormal morphology of female internal genitalia, Hydronephrosis, Cryp... ORPHA:3378
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Hydronep... ORPHA:1834
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Micropenis, Azoospermia, Non-... ORPHA:432
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Joubert Syndrome 37
Cryptorchidism, Micropenis, Molar tooth sign on MRI, Hydronephrosis, Hypoplasia of the corpus cal... OMIM:619185
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Renal insufficiency, Nephropathy, Hydroceph... ORPHA:220497
Bardet-Biedl Syndrome
Nephrotic syndrome, Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hypogonadi... ORPHA:110
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Pmm2-Cdg
Hypogonadotropic hypogonadism, Multiple renal cysts, Nephrotic syndrome, Proteinuria, Elevated ci... ORPHA:79318
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Nephropathy, R... ORPHA:2318
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Microcephaly, Gonadal dysgenesis, Premature ovarian insufficien... ORPHA:243
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Microcephaly, Hypoplasia of the uterus, Hypo... ORPHA:3130
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Abnormality of the medulla oblonga... ORPHA:206448
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Renal cortic... ORPHA:397715
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
X-Linked Cerebral Adrenoleukodystrophy
Abnormality of the brainstem white matter, Myelopathy, Male hypogonadism, Abnormal periventricula... ORPHA:139396
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Diphallia
Ectopic scrotum, Horseshoe kidney, Bifid penis, Ureteral duplication, Cryptorchidism, Abnormal sp... ORPHA:227
Peutz-Jeghers Syndrome
Abnormality of the ureter, Enlarged polycystic ovaries, Cervix cancer, Renal cell carcinoma, Mult... ORPHA:2869
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Micr... ORPHA:314621
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplasia o... ORPHA:66628
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Multiple small medullary renal cysts, Oc... OMIM:216360
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Anterior h... ORPHA:2235
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Bilateral cryptorchidism, Ambiguous genitalia, Ovarian serous... ORPHA:1772
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonadotropic hypogonadism, Decreased test... ORPHA:179494
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chordee, Agenesis of corpus callosum, Cryptorchidism, U... OMIM:618820
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Vaginal atresia, Transverse vaginal septum,... OMIM:236700
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia, Vaginal atresia OMIM:616258
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Hydrocephalus, Panhypopituitarism, Anterior hypopituitarism, Ovarian ... ORPHA:91348
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Anencephaly, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria OMIM:616546
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Autosomal Recessive Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Hypospadias, Cryptor... ORPHA:2311
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormality of the spinal cord ORPHA:494
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormality of the spinal cord, Hydrocephalus ORPHA:99947
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Atresia Of Urethra
Hydronephrosis, Dilatation of the bladder, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Polymicrogyria, Encephalocele ORPHA:220493
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Shawl scrotum, Ureterocele, Multicystic kidney dysplasi... ORPHA:261265
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI OMIM:277170
Oeis Complex
Renal agenesis, Rectovaginal fistula, Micropenis, Hydronephrosis, Cryptorchidism, Bladder exstrop... OMIM:258040
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Perrault Syndrome 2
Streak ovary OMIM:614926
Joubert Syndrome 1
Renal cyst, Occipital myelomeningocele, Molar tooth sign on MRI, Hypoplasia of the brainstem, Bra... OMIM:213300
Arima Syndrome
Occipital meningocele, Nephronophthisis, Molar tooth sign on MRI, Polycystic kidney dysplasia, Hy... OMIM:243910
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication OMIM:602200
Joubert Syndrome 35
Hydronephrosis, Molar tooth sign on MRI, Renal fibrosis, Multicystic kidney dysplasia, Elongated ... OMIM:618161
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Cryptorchidism, Renal hypoplasia, Molar tooth sign on MRI, Ambiguous genitalia, Encep... OMIM:616300
Peutz-Jeghers Syndrome
Abnormality of the ureter, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian ... OMIM:175200
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Abnormality of the kidney, Abnormal lo... ORPHA:261318
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Japanese Encephalitis
Abnormal pons morphology, Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substanti... ORPHA:79139
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Smith-Magenis Syndrome
Abnormal localization of kidney, Abnormality of the ureter, Renal hypoplasia/aplasia, Precocious ... ORPHA:819
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal midbrain morphology, Hydronephrosis, Microcephaly, Hypoplasia of the bra... ORPHA:444072
Toriello-Lacassie-Droste Syndrome
Abnormality of the ureter, Abnormal penis morphology, Epispadias, Abnormality of the bladder, Hyp... ORPHA:3339
Schinzel-Giedion Syndrome
Renal cyst, Abnormality of the ureter, Nephrolithiasis, Micropenis, Hydronephrosis, Neural tube d... ORPHA:798
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Hematuria, Renal duplication, Hydronephrosis, Ureterocele, Renal dy... ORPHA:79403
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal morphology of female i... ORPHA:289
Alagille Syndrome
Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia ORPHA:52
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Joubert Syndrome 6
Nephronophthisis, Thickened superior cerebellar peduncle, Bile duct proliferation, Molar tooth si... OMIM:610688
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormal ovarian morphology, Polycystic ovaries, Cryptorchidism, Micro... ORPHA:95699
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Abnormality of the ureter, Hypogonadism ORPHA:3253
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Micropenis, Renal hypoplasia, Decreased testicular size, Microce... OMIM:619321
Cardiac Valvular Defect, Developmental
Hydronephrosis, Urethral diverticulum, Hydroureter OMIM:212093
Alg9-Cdg
Cerebral atrophy, Enlarged kidney, Ureteral hypoplasia, Progressive microcephaly, Hydronephrosis,... ORPHA:79328
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Polycystic kidney... OMIM:200980
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Polycystic kidney dysplasia OMIM:619562
Orofaciodigital Syndrome Xiv
Hypoplasia of the corpus callosum, Cryptorchidism, Occipital encephalocele, Molar tooth sign on M... OMIM:615948
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Cerebral atrophy, Myelomeningocele, Agenesis ... OMIM:311200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Precocious puberty in females, Micrope... ORPHA:90793
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Myelitis, Hypointensity of cerebral white matte... ORPHA:83597
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Cryptorchidism, Ambiguous genitalia, female, External ... OMIM:249000
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Igg4-Related Kidney Disease
Urinary bladder inflammation, Enlarged kidney, Abnormal ureter morphology, Hematuria, Proteinuria... ORPHA:449395
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Molar tooth sign on MRI,... OMIM:619306
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Decreased response to growth hormone stimulation ... OMIM:619476
Baller-Gerold Syndrome
Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter, Vesicoureteral reflux ORPHA:1225
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Spinal arteriovenous malformation, Abnormality of the spin... ORPHA:53721
Opitz gbbb syndrome, type II
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Bifid scrotum, Hypospadias OMIM:145410
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Abnormality of the spinal cord... ORPHA:2369
Tay-Sachs Disease
Dystonia, Increased serum beta-hexosaminidase, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Adrenomyeloneuropathy
Cerebral dysmyelination, Adrenocorticotropic hormone excess, Atrophy of the spinal cord, Urinary ... ORPHA:139399
Tetrasomy 9P
Absent gallbladder, Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Micropenis... ORPHA:3310
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Hypothalamic hamartoma, Molar tooth sign on MRI, Bilat... ORPHA:2754
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Polycystic ovaries, Elevated circulating luteinizing hormone level, Ele... ORPHA:572333
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Schwartz-Jampel Syndrome
Abnormality of the ureter, Nephrolithiasis, Testicular torsion, Abnormality of the urinary system... ORPHA:800
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Micropenis, Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Di... OMIM:619479
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Solitary Bone Cyst
Abnormality of the spinal cord ORPHA:83468
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Superficial Siderosis
Atrophy/Degeneration affecting the brainstem, Abnormal corpus callosum morphology, Atrophy of the... ORPHA:247245
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal midbrain morphology, Enuresis, Incr... ORPHA:293987
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated third ventricle, Molar tooth sign on MRI, Open opercul... ORPHA:434179
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Mosaic Trisomy 20
Cryptorchidism, Horseshoe kidney, Intrauterine growth retardation, Abnormality of the spinal cord ORPHA:1724
Joubert Syndrome 5
Renal cortical cysts, Stage 5 chronic kidney disease, Thickened superior cerebellar peduncle, Mol... OMIM:610188
Digeorge Syndrome
Cholelithiasis, Unilateral renal agenesis, Parathyroid agenesis, Hydronephrosis, Ovarian cyst, Mi... OMIM:188400
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Testicular neopl... ORPHA:1359
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Primary Sjögren Syndrome
Parotitis, Glomerulonephritis, Tubulointerstitial nephritis, Vaginal dryness, Abnormality of the ... ORPHA:289390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Anemia, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Lhx1

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 Lhx1.

No publications found that use IMPC mice or data for Lhx1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lhx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lhx1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele Mice
Lhx1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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