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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 CD8-positive, alpha-beta T cell number Lhx1tm1e(EUCOMM)Wtsi HET   Early adult 6.38×10-06
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

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, Shawl scrotum, Renal hypoplasia/aplasia, Ureterocele, Cryptorchidis... 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
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Leopard Syndrome 1
Aplasia of the ovary, Unilateral renal agenesis, Spina bifida occulta, Hypoplasia of the ovary, H... OMIM:151100
Dysmyelination With Jaundice
Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism OMIM:224250
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... OMIM:236730
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia of the ovary, Agonadism, Non-obstructive azoospermia, Small pituitary gland, Increased ci... ORPHA:2232
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Penoscrotal Transposition
Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormali... ORPHA:2842
Cerebellofaciodental Syndrome
Hypoplasia of the midbrain, Hypoplasia of the pons, Cryptorchidism OMIM:616202
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus... ORPHA:280195
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis ORPHA:1046
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... ORPHA:325345
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Bladder Exstrophy
Vesicoureteral reflux, Abnormality of the clitoris, Recurrent urinary tract infections, Hypoplasi... ORPHA:93930
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Caudal Duplication
Myelomeningocele, Spina bifida, Spinal cord lesion, Cryptorchidism, Uterus didelphys, Ureteral du... ORPHA:1756
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 16
Renal cyst, Molar tooth sign on MRI, Encephalocele, Nephronophthisis OMIM:614465
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly, Renal cyst, Hypospadias, Occipital encephalocele, Micropenis OMIM:614175
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Renal cyst, Bile... OMIM:611134
Joubert Syndrome 7
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kidney disea... OMIM:611560
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Bladder Exstrophy And Epispadias Complex
Bifid clitoris, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exs... OMIM:600057
Joubert Syndrome 18
Molar tooth sign on MRI, Arrhinencephaly, Renal cyst, Horseshoe kidney, Occipital encephalocele, ... OMIM:614815
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... OMIM:614723
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Caudal Regression Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Renal agenesis, Ectopic kidney, Abnormality of the ur... ORPHA:3027
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... ORPHA:2973
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder ORPHA:2547
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Silver-Russell Syndrome 1
Nephroblastoma, Congenital posterior urethral valve, Testicular seminoma, Abnormality of the uret... OMIM:180860
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypogonadism, Cryptorchidism ORPHA:3409
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... ORPHA:168563
Joubert Syndrome 9
Stage 5 chronic kidney disease, Encephalocele, Molar tooth sign on MRI OMIM:612285
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Bardet-Biedl Syndrome 12
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Hydronephrosis OMIM:615989
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Hypouricemia, Renal, 1
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Frasier Syndrome
Gonadoblastoma, Renal insufficiency, Streak ovary, Nephrotic syndrome, Ambiguous genitalia, male,... ORPHA:347
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Joubert Syndrome 2
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... OMIM:608091
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Streak ovary, Abnormality of the uterus, Nephropathy, Hypospadias, Cryptorchidism... OMIM:194072
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Gonadal dysgenesis ORPHA:1770
Exstrophy-Epispadias Complex
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ... ORPHA:322
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Abnormal vagina mo... ORPHA:251510
Joubert Syndrome 15
Nephronophthisis, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis OMIM:614464
Cloacal Exstrophy
Abnormal fallopian tube morphology, Abnormality of the clitoris, Vesicoureteral reflux, Renal hyp... ORPHA:93929
Joubert Syndrome 14
Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ... OMIM:614424
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Renal hypoplasia/aplasia, Renal cyst, Abnormali... ORPHA:1834
Prune Belly Syndrome
Congenital posterior urethral valve, Hydroureter, Hydronephrosis, Cryptorchidism OMIM:100100
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Multiple renal cysts... ORPHA:3378
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of penis, Hypoplasia o... ORPHA:110
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... ORPHA:432
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Elevated c... OMIM:619834
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Micropenis, Cryptorchidism OMIM:618841
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Elevated circulating luteinizing... OMIM:612885
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Pmm2-Cdg
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:79318
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Joubert Syndrome 37
Molar tooth sign on MRI, Decreased testicular size, Cryptorchidism, Micropenis, Hydronephrosis OMIM:619185
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Coach Syndrome 1
Multiple small medullary renal cysts, Encephalocele, Molar tooth sign on MRI, Stage 5 chronic kid... OMIM:216360
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619665
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cyst... ORPHA:2869
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Transient nep... ORPHA:356961
Satoyoshi Syndrome
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... ORPHA:3130
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology ORPHA:494
Joubert Syndrome With Oculorenal Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Nephropathy, Renal insufficiency ORPHA:2318
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circulating gonadotro... ORPHA:1772
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Abnormal spinal cord morphology, Myelopathy, Abnormal brainstem white matter m... ORPHA:139396
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:615723
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Nephropathy, Renal insufficiency ORPHA:220497
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... OMIM:236700
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619203
Diphallia
Renal duplication, Abnormal spermatogenesis, Bifid scrotum, Renal malrotation, Penoscrotal transp... ORPHA:227
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Cryptor... ORPHA:2311
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Ureterocele, Cryptorchidis... ORPHA:261265
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Pituitary hyp... ORPHA:66628
Premature Ovarian Failure 6
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:612310
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Pituitary hyp... ORPHA:179494
46,Xx Gonadal Dysgenesis
Ambiguous genitalia, Increased circulating gonadotropin level, Gonadal dysgenesis, Streak ovary, ... ORPHA:243
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Atresia Of Urethra
Vesicoureteral reflux, Recurrent urinary tract infections, Renal dysplasia, Hydroureter, Bladder ... ORPHA:105
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the ovary, Bicornuate uterus, Hypoplasia ... OMIM:615300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Encephalocele, Molar tooth sign on MRI, Renal cyst, Stillbirth, Cryptorchidi... OMIM:616300
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... OMIM:258040
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Perrault Syndrome 2
Streak ovary OMIM:614926
Joubert Syndrome 22
Renal hypoplasia, Molar tooth sign on MRI, Intrauterine growth retardation OMIM:615665
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Micropenis OMIM:616546
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Joubert Syndrome 35
Multicystic kidney dysplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Re... OMIM:618161
Joubert Syndrome 6
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thi... OMIM:610688
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Adult Krabbe Disease
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology ORPHA:206448
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Reduced circulating prolactin concentration, Secondary growth hormone d... ORPHA:2235
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI ORPHA:220493
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Precocious puberty, Abnormal localization of... ORPHA:819
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Joubert Syndrome 1
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ren... OMIM:213300
Trisomy 20P
Macroorchidism, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Multiple renal... ORPHA:261318
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal midbrain morphology, Encephalocele ORPHA:314621
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Dextrocardia
Abnormality of the ureter, Abnormal reproductive system morphology, Abnormal renal morphology ORPHA:1666
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Renal cortical cysts, Renal insufficiency, Elongated superior cerebellar peduncle, M... ORPHA:397715
Toriello-Lacassie-Droste Syndrome
Epispadias, Abnormality of the bladder, Hypospadias, Abnormality of the ureter, Abnormal penis mo... ORPHA:3339
Junctional Epidermolysis Bullosa With Pyloric Atresia
Renal duplication, Renal dysplasia, Hematuria, Urethral stricture, Urinary bladder inflammation, ... ORPHA:79403
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormality of the kidney, Epispadias, Abnormality of the ... ORPHA:289
Arima Syndrome
Hypoplasia of the brainstem, Molar tooth sign on MRI, Stage 5 chronic kidney disease, Renal sodiu... OMIM:243910
Meckel Syndrome, Type 1
Molar tooth sign on MRI, Ambiguous genitalia, female, External genital hypoplasia, Anencephaly, H... OMIM:249000
Hereditary Orotic Aciduria
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Peutz-Jeghers Syndrome
Ovarian cyst, Abnormality of the ureter, Bladder polyp, Uterine neoplasm, Precocious puberty with... OMIM:175200
Alagille Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Cryptorchidism ORPHA:52
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Small scrotum, Hypogonadism ORPHA:3253
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Anemia OMIM:184850
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... OMIM:228300
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Holoprosencephaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Str... OMIM:618820
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Joubert Syndrome 39
Polycystic kidney dysplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Ambiguous genitalia, Abnormality of female external genitalia, Increased s... ORPHA:95699
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Penile Agenesis
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... ORPHA:49
Schinzel-Giedion Syndrome
Neural tube defect, Renal cyst, Abnormality of the ureter, Hypospadias, Annular pancreas, Streak ... ORPHA:798
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Communicating hydrocephalus, Unilateral renal agenesis, Hyperparathyroidism, Ova... OMIM:618188
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Hypoplasia of the pons, Abnormal midbrain morphology, Ureteropelvic ... ORPHA:444072
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Molar tooth sign on MRI, Stage 5 chro... OMIM:610188
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardatio... OMIM:619321
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Renal agenesis, Abnormality o... OMIM:200980
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Japanese Encephalitis
Abnormal substantia nigra morphology, Paucity of anterior horn motor neurons, Hyperintensity of M... ORPHA:79139
Alg9-Cdg
Bicornuate uterus, Enlarged kidney, Ureteral hypoplasia, Hypoplasia of the ovary, Hypoplastic nip... ORPHA:79328
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La... ORPHA:845
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology, Urinary bladder sphincter dys... ORPHA:53721
Orofaciodigital Syndrome Vi
Arrhinencephaly, Occipital meningocele, Molar tooth sign on MRI OMIM:277170
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis ORPHA:1225
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Epispadias, Holoprosencephaly, Cryptorchidism, Occipital encephalocele, ... OMIM:615948
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Abnormal midbrain morph... ORPHA:68
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... ORPHA:449395
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Woodhouse-Sakati Syndrome
Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, Hypogonadism, De... ORPHA:3464
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Adrenomyeloneuropathy
Urinary incontinence, Adrenocorticotropic hormone excess, Urinary bladder sphincter dysfunction, ... ORPHA:139399
Tetrasomy 9P
Absent gallbladder, Abnormal spinal cord morphology, Hydrocephalus, Oligospermia, Multiple renal ... ORPHA:3310
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Schwartz-Jampel Syndrome
Testicular torsion, Decreased testicular size, Abnormality of the ureter, Abnormality of the urin... ORPHA:800
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Myelitis ORPHA:83597
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Molar tooth sign on MRI ORPHA:2754
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Molar tooth sign on MRI OMIM:619306
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating luteinizing hormon... ORPHA:572333
Wilson Disease
Aminoaciduria, Glycosuria, Face of the giant panda sign, Hyperphosphaturia, Renal tubular dysfunc... OMIM:277900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Mosaic Trisomy 20
Horseshoe kidney, Abnormal spinal cord morphology, Intrauterine growth retardation, Cryptorchidism ORPHA:1724
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Hypospadias, Molar tooth sign on MRI, Micropenis OMIM:619479
Joubert Syndrome 38
Small pituitary gland, Ectopic posterior pituitary, Decreased response to growth hormone stimulat... OMIM:619476
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy/Degeneration affecting the brainstem, Functional abnorma... ORPHA:247245
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... ORPHA:293987
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormality of the ureter ORPHA:141127
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Molar tooth sign on MRI, Epispadias ORPHA:434179
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Abnormal spinal cord morphology, Vaginal dryness, Glomerulonephriti... ORPHA:289390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia, Anemia 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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