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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
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

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
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... 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
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary... OMIM:151100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly OMIM:601374
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the midbrain OMIM:616202
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Joubert Syndrome 15
Ambiguous genitalia, Exencephaly, Nephronophthisis, Molar tooth sign on MRI, Micropenis OMIM:614464
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... ORPHA:280195
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, A... ORPHA:93930
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ... ORPHA:1756
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Renal cyst, Nephronophthisis OMIM:614465
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Mola... OMIM:611134
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Joubert Syndrome 7
Encephalocele, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the... OMIM:611560
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C... ORPHA:3027
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Test... OMIM:180860
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Joubert Syndrome 18
Occipital encephalocele, Renal cyst, Horseshoe kidney, Molar tooth sign on MRI, Intrauterine grow... OMIM:614815
Meckel Syndrome, Type 10
Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Molar tooth sign on MRI, Micropenis OMIM:614175
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Joubert Syndrome 9
Encephalocele, Stage 5 chronic kidney disease, Molar tooth sign on MRI OMIM:612285
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Urban-Rogers-Meyer Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, 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
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... ORPHA:347
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Joubert Syndrome 2
Encephalocele, Renal insufficiency, Brainstem dysplasia, Hydrocephalus, Renal cyst, Hypoplasia of... OMIM:608091
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid... ORPHA:322
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Abn... ORPHA:93929
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Hypoplasia of the brainstem, Molar tooth s... OMIM:614424
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus OMIM:619111
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
Abnormal spinal cord morphology, Hydrocephalus ORPHA:99947
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... OMIM:620311
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... OMIM:216360
Joubert Syndrome 37
Cryptorchidism, Hydronephrosis, Molar tooth sign on MRI, Micropenis, Decreased testicular size OMIM:619185
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Ne... ORPHA:79318
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multiple renal cyst... ORPHA:2869
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:66628
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:179494
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Hydrocephalus, Molar tooth sign on MRI, Nephropathy ORPHA:2318
Slc35A2-Cdg
Abnormal midbrain morphology, Precocious puberty, Transient nephrotic syndrome, Atrophy/Degenerat... ORPHA:356961
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal brainstem white matter morphology, Male hypogonadism, Abnormal spinal cord m... ORPHA:139396
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Hydrocephalus, Molar tooth sign on MRI, Nephropathy ORPHA:220497
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Diphallia
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Dista... ORPHA:227
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormality of the ureter, Hypospadias, Abnormal morphology of female internal ge... ORPHA:2311
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Polycystic kidney dysplasia, Molar tooth... OMIM:616546
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Ambiguous genitalia, Mol... OMIM:616300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... ORPHA:2235
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Molar tooth sign on MRI, Elongated superior cerebel... OMIM:618161
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Smith-Magenis Syndrome
Precocious puberty, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/... ORPHA:819
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 1
Brainstem dysplasia, Renal cyst, Occipital myelomeningocele, Hypoplasia of the brainstem, Molar t... OMIM:213300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:220493
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Duplication Of The Pituitary Gland
Encephalocele, Abnormal pituitary gland morphology, Abnormal midbrain morphology ORPHA:314621
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Dextrocardia
Abnormal reproductive system morphology, Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Renal insufficiency, Hypospadias, Supernumerary nipple, Meningocele, Ren... ORPHA:397715
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr... ORPHA:95699
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Arima Syndrome
Proteinuria, Brainstem dysplasia, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypoplasia... OMIM:243910
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Large placenta, Hydrocephalus, Ambiguous ge... OMIM:249000
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto... ORPHA:289
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Abnormality of the ureter ORPHA:3253
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Peutz-Jeghers Syndrome
Abnormality of the ureter, Ovarian cyst, Bladder polyp, Precocious puberty with Sertoli cell tumo... OMIM:175200
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Polycystic kidney dysplasia OMIM:619562
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Alagille Syndrome
Cryptorchidism, Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Umbili... OMIM:618188
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Ne... ORPHA:798
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Joubert Syndrome 5
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... OMIM:610188
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the brainstem... ORPHA:444072
Acrorenal-Mandibular Syndrome
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u... OMIM:200980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Intrauterine growth retardation, Microp... OMIM:619321
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma... ORPHA:79139
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Alg9-Cdg
Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples, Hydronephro... ORPHA:79328
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Urinary bladder sphincter dys... ORPHA:53721
Adrenomyeloneuropathy
Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Adrenocorticot... ORPHA:139399
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Epispadias, Cryptorchidism, Unilateral renal hypoplasia, Holoprosencepha... OMIM:615948
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Hydrocephalus, Abnormal spinal cord morphology, Horseshoe kid... ORPHA:3310
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology, Myelitis ORPHA:83597
Schwartz-Jampel Syndrome
Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system, Testicular torsion... ORPHA:800
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Bilateral cryptorchidism ORPHA:2754
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Wilson Disease
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Face of the ... 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
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Micropenis, Hypospadias, Small pituitary gland OMIM:619479
Mosaic Trisomy 20
Cryptorchidism, Abnormal spinal cord morphology, Horseshoe kidney, Intrauterine growth retardation ORPHA:1724
Joubert Syndrome 38
Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t... OMIM:619476
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology, Functional abnormality of the bladde... ORPHA:247245
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic... ORPHA:293987
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Primary Sjögren Syndrome
Renal insufficiency, Glomerulonephritis, Abnormal spinal cord morphology, Tubulointerstitial neph... ORPHA:289390
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Bilateral cryptorchidism, Epispadias ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Exaggerated startle response, Decreased serum iron, Dystonia 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

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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