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Gene: Lhx1 MGI:99783

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Gene Summary

Name:
LIM homeobox protein 1
Synonyms:
Lim1

Order Alleles

IMPC Data Collections

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

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 startle reflex Lhx1tm1e(EUCOMM)Wtsi HET   Early adult 4.15×10-06
decreased circulating alkaline phosphatase level Lhx1tm1e(EUCOMM)Wtsi HET Early adult 4.59×10-05
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

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
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Leopard Syndrome 1
Unilateral renal agenesis, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Micrope... OMIM:151100
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain OMIM:616202
Joubert Syndrome 15
Nephronophthisis, Exencephaly, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis OMIM:614464
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalocele... ORPHA:280195
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... ORPHA:2138
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Abnormal clitoris morphology, Abnormal labia mo... ORPHA:325345
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Abnormal cl... ORPHA:93930
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Myelomeningocele, Cryptorchidism, Spinal cord lesion... ORPHA:1756
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele, Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas... OMIM:611560
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Renal cyst, Hydrocephalus, Molar tooth sign on MR... OMIM:611134
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... OMIM:600057
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchi... ORPHA:3027
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Testicular seminoma, Urethral valve, Hypospadias, Cong... OMIM:180860
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Renal cyst, Molar tooth sign on MRI, Micropenis, Hypospadias OMIM:614175
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Renal cyst, Molar too... OMIM:614815
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... ORPHA:2973
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Hypoplasia of penis, Cryptorchidism ORPHA:3409
Joubert Syndrome 9
Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI OMIM:612285
Renal Agenesis
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Bilateral renal agenesis, Aplasia... ORPHA:411709
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Joubert Syndrome 2
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Renal insufficiency, Encephal... OMIM:608091
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Renal insufficiency, Protei... ORPHA:347
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Gonadal dysgenesis, Renal hypoplasia/aplasia ORPHA:1770
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Bifid scrotum, Horseshoe kidney, Ab... ORPHA:322
Rudiger Syndrome
Ureterovesical stenosis, Death in infancy, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... ORPHA:1834
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Joubert Syndrome 14
Hypoplasia of the brainstem, Encephalocele, Renal cyst, Hydrocephalus, Molar tooth sign on MRI, M... OMIM:614424
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Disp... ORPHA:3378
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Cryptorchidism, Congenital posterior urethral valve OMIM:100100
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Breast hypoplasia, Decreased testicular size, Azo... ORPHA:432
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Ovarian Dysgenesis 10
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:619834
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Hypoplasia of the ovary, Cryptorchidism OMIM:618841
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Abnormal spinal cord morphology ORPHA:99947
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Molar tooth sign on MRI, Micropenis OMIM:619185
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Peutz-Jeghers Syndrome
Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts, Renal cell carcinom... ORPHA:2869
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619665
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperplastic labia majora, Decreased testicular si... ORPHA:79318
Slc35A2-Cdg
Precocious puberty, Abnormal midbrain morphology, Transient nephrotic syndrome, Intrauterine grow... ORPHA:356961
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology ORPHA:494
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Abnormal brainstem white matter morphology, Myelopathy, Abnormal spinal cord m... ORPHA:139396
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:615723
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Joubert Syndrome With Oculorenal Defect
Nephropathy, Renal insufficiency, Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:2318
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... OMIM:236700
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:220497
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Diphallia
Penoscrotal transposition, Renal malrotation, Bifid scrotum, Horseshoe kidney, Distal urethral du... ORPHA:227
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Cryptorchidism, Abnormal morphology of female internal ge... ORPHA:2311
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic h... ORPHA:66628
Premature Ovarian Failure 21
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone level OMIM:620311
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic h... ORPHA:179494
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the brainstem, Occipital meningocele, Anencephaly, Hydrocephalus, Molar tooth sign ... OMIM:616546
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico... OMIM:615300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Encephalocele, Cryptorchidism, Renal cyst, Ambiguous genitalia, Molar tooth sig... OMIM:616300
Oeis Complex
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Ambiguous genit... OMIM:258040
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal... ORPHA:243
Perrault Syndrome 2
Streak ovary OMIM:614926
Joubert Syndrome 22
Renal hypoplasia, Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Elongated superior cerebellar pedun... OMIM:618161
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Joubert Syndrome 1
Nephropathy, Hypoplasia of the brainstem, Occipital myelomeningocele, Brainstem dysplasia, Renal ... OMIM:213300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/... ORPHA:819
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:610688
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Breast hypoplasia, Hypogonadotropic hypogonadism, Hypoplasia... ORPHA:2235
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... ORPHA:261318
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Abnormal pituitary gland morphology ORPHA:314621
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Supernumerary nipple, Renal cortical cysts, Renal insufficiency, Elongat... ORPHA:397715
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Dextrocardia
Abnormal reproductive system morphology, Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
Peutz-Jeghers Syndrome
Bladder polyp, Uterine neoplasm, Abnormality of the ureter, Ovarian cyst, Precocious puberty with... OMIM:175200
Arima Syndrome
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas... OMIM:243910
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Cryptorchidism, Renal hypoplasia/aplasia ORPHA:52
Ellis Van Creveld Syndrome
Hydroureter, Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptor... ORPHA:289
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Abnormality of the ureter, Small scrotum ORPHA:3253
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Decreased circulating renin level OMIM:615474
Meckel Syndrome, Type 1
Occipital encephalocele, Abnormality of the uterus, Ambiguous genitalia, female, Intrauterine gro... OMIM:249000
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormal male external... ORPHA:95699
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Umbilical hernia, Ovarian cyst, Communicating hyd... OMIM:618188
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Joubert Syndrome 39
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Schinzel-Giedion Syndrome
Annular pancreas, Umbilical hernia, Abnormality of the ureter, Streak ovary, Nephrolithiasis, Hyd... ORPHA:798
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Ureteropelvic ... ORPHA:444072
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... OMIM:610188
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Acrorenal-Mandibular Syndrome
Renal agenesis, Uterus didelphys, Aplasia of the bladder, Abnormality of the ureter, Unicornuate ... OMIM:200980
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the o... OMIM:619321
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Paucity of anterior horn moto... ORPHA:79139
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Alg9-Cdg
Hydronephrosis, Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus, Ureteral hypopla... ORPHA:79328
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Bardet-Biedl Syndrome
Chronic kidney disease, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Urinary bladder sphincter dys... ORPHA:53721
Orofaciodigital Syndrome Vi
Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia OMIM:620423
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Abnormal spinal cord morphol... ORPHA:2369
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
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Unilateral renal hypoplasia, Cryptorchidism, Molar tooth sign on MRI, Mi... OMIM:615948
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal spinal cord morphol... ORPHA:68
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypogonadism, S... ORPHA:3464
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Orofaciodigital Syndrome I
Myelomeningocele, Ovarian cyst, Proteinuria, Hydrocephalus, Pancreatic cysts, Polycystic kidney d... OMIM:311200
Tetrasomy 9P
Umbilical hernia, Horseshoe kidney, Intrauterine growth retardation, Absent gallbladder, Cryptorc... ORPHA:3310
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Exaggerated startle response OMIM:615574
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Adrenomyeloneuropathy
Urinary retention, Urinary bladder sphincter dysfunction, Adrenocorticotropic hormone excess, Dor... ORPHA:139399
Acute Disseminated Encephalomyelitis
Myelitis, Abnormal spinal cord morphology, Abnormal brainstem MRI signal intensity ORPHA:83597
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Decreased testicular size, Nephroli... ORPHA:800
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Bilateral cryptorchidism ORPHA:2754
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... OMIM:614527
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Micropenis, Hypospadias, Molar tooth sign on MRI OMIM:619479
Mosaic Trisomy 20
Horseshoe kidney, Abnormal spinal cord morphology, Intrauterine growth retardation, Cryptorchidism ORPHA:1724
Joubert Syndrome 38
Ectopic posterior pituitary, Molar tooth sign on MRI, Small pituitary gland, Decreased response t... OMIM:619476
Superficial Siderosis
Functional abnormality of the bladder, Atrophy of the spinal cord, Abnormal spinal cord morpholog... ORPHA:247245
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Wilson Disease
Aminoaciduria, Glycosuria, Face of the giant panda sign, Hyperphosphaturia, Renal tubular dysfunc... OMIM:277900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Increased circulating prolactin concentration, Decreased response t... ORPHA:293987
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Primary Sjögren Syndrome
Parotitis, Renal insufficiency, Glomerulonephritis, Abnormal spinal cord morphology, Tubulointers... ORPHA:289390
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Epispadias, Bilateral cryptorchidism ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased circulating iron concentration, Dystonia, Exaggerated startle response ORPHA:438213
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
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

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
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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