Gene Summary

Name:
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
Synonyms:
Kiaa0027-hp,  WKL1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased brain weight Mlc1tm1.1(KOMP)Vlcg HOM   Early adult 1.23×10-11
abnormal uterus morphology Mlc1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cerebellum  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.58% (3 of 515)
aorta 0.19% (1 of 518)
blood 0.0%
bone marrow 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cecum 5.57% (19 of 341)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
chest bone Unavailable
colon 15.87% (20 of 126)
diaphragm 0.0%
duodenum 2.56% (3 of 117)
epididymis 13.6% (17 of 125)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.2% (1 of 499)
hindlimb 0.0%
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
ileum 15.83% (19 of 120)
jejunum 7.69% (9 of 117)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.36% (1 of 277)
midbrain 0.0%
olfactory lobe 0.39% (2 of 519)
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
stomach pyloric region 0.0%
striatum 0.58% (3 of 521)
sublingual gland 0.0%
submandibular gland 1.59% (2 of 126)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
tongue 3.42% (4 of 117)
trachea 0.58% (3 of 520)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 528)
vagina 0.0%
vas deferens 4.65% (16 of 344)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Mlc1 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 Mlc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Megalencephaly, Diffuse swelling of cerebral white matter, Diffuse spongiform leukoencephalopathy OMIM:604004

The table below shows human diseases predicted to be associated to Mlc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Cerebral edema OMIM:608033
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Glioblastoma
Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology ORPHA:360
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
Cerebral edema OMIM:614212
Kcnq2-Related Epileptic Encephalopathy
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal globus pallidus morphology, Abnorma... ORPHA:439218
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Cerebe... OMIM:604213
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Gliosis, Cerebral edema ORPHA:88619
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures
Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Cerebral edema OMIM:619876
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:237300
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Abnormal cerebral white matter morphology, Gliosis, Cerebral edema, Cerebral atrophy OMIM:618321
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Cerebral edema OMIM:201450
Maple Syrup Urine Disease
Cerebral edema OMIM:248600
Reversible Cerebral Vasoconstriction Syndrome
Leukoencephalopathy, Ischemic stroke, Cerebral edema ORPHA:284388
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema OMIM:603471
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral white matter atrophy, Leukoencephalopathy, Cerebral edema OMIM:617186
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Acute Disseminated Encephalomyelitis
Abnormal basal ganglia morphology, Abnormal periventricular white matter morphology, Hypointensit... ORPHA:83597
Migraine, Familial Hemiplegic, 2
Cerebral edema OMIM:602481
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema OMIM:611126
Herpes Simplex Virus Encephalitis
Cerebral edema ORPHA:1930
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Japanese Encephalitis
Pulmonary edema, Paucity of anterior horn motor neurons, Abnormality of the internal capsule, Abn... ORPHA:79139
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Dural Sinus Malformation
Cerebral edema, Hypoplasia of the frontal lobes ORPHA:97339
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Lissencephaly, Cerebral edema, Astrocytosis ORPHA:258
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebral edema ORPHA:99901
Angiostrongyliasis
Cerebral edema ORPHA:74
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Familial Or Sporadic Hemiplegic Migraine
Cerebral edema ORPHA:569
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema OMIM:619355
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Citrullinemia Type Ii
Cerebral edema ORPHA:247585
Lujo Hemorrhagic Fever
Generalized edema, Facial edema, Periorbital edema, Cerebral edema ORPHA:319213
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Hymen, Imperforate
Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Encephalomalacia, Abnormal cerebral white matter morphology, A... ORPHA:68
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Ethylene Glycol Poisoning
Pulmonary edema, Cerebral edema ORPHA:31826
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Focal T2 hypointense basal ganglia lesion, Microcephaly, Focal T2 hyperinten... OMIM:252010
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Cerebral cortex with spongiform changes, Neurofibrillary tangles OMIM:605055
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Citrullinemia, Classic
Cerebral edema OMIM:215700
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
X-Linked Intellectual Disability, Snyder Type
Megalencephaly, Cerebral edema ORPHA:3063
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Cryptococcosis
Cerebral cortical atrophy, Cerebral edema, Pleural effusion ORPHA:1546
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema OMIM:311250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Argininosuccinic Aciduria
Cerebral edema OMIM:207900
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar ... ORPHA:101070
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... OMIM:613153
Alzheimer Disease 9, Susceptibility To
Hippocampal atrophy, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:608907
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Lewy bodies, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607485
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Cerebellar dysplasia OMIM:615181
Acute Liver Failure
Cerebral edema ORPHA:90062
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles OMIM:616840
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607822
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Aplasia of the vagina, Septate vagina OMIM:146255
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
M├╝llerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Megalencephaly, Diffuse swelling of cerebral white matter, Diffuse spongiform leukoencephalopathy OMIM:604004
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles OMIM:137440
Supranuclear Palsy, Progressive, 1
Gliosis, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Neurofibrillary tangles, N... OMIM:601104
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... ORPHA:90796
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles ORPHA:1020
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Uterus didelphys, Aplasia of the uterus, Septate vagina ORPHA:2237
Niemann-Pick Disease, Type C2
Fetal ascites, Polyhydramnios, Neurofibrillary tangles OMIM:607625
Supranuclear Palsy, Progressive, 2
Granulovacuolar degeneration, Gliosis, Neuronal loss in basal ganglia, Neurofibrillary tangles OMIM:609454
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Niemann-Pick Disease, Type C1
Fetal ascites, Neurofibrillary tangles OMIM:257220
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles OMIM:610217
Alzheimer Disease 4
Neurofibrillary tangles OMIM:606889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Adult-Onset Dystonia-Parkinsonism
Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia, Neurofibrillary tangles ORPHA:199351
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Coffin-Siris Syndrome 9
Hypoplasia of the uterus OMIM:615866
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Streak ovary, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora OMIM:618419
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Hypospadias, Epididymal cyst OMIM:137920
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... OMIM:107480
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism OMIM:130050
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy OMIM:135900
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Hypospadias OMIM:236680
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty OMIM:194190
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary ORPHA:572333
Okamoto Syndrome
Bifid uterus ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Cystocele, Uterine rupture, Hypospadias, Cryptorchidism ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Cryptorchid... OMIM:261540
Pallister-Killian Syndrome
Labial hypoplasia, Hypospadias, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of... OMIM:601803
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia ORPHA:709

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 Mlc1

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 Mlc1.

No publications found that use IMPC mice or data for Mlc1.

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MGI Allele Allele Type Produced
Mlc1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Mlc1tm447806(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mlc1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mlc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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