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Gene: Lrat MGI:1891259

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Gene Summary

Name:
lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase)
Synonyms:
1300010A18Rik

Order Alleles

IMPC Data Collections

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
preweaning lethality, incomplete penetrance Lrattm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vagina  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 Not available
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)
Cerebellum 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)
Eye 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
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
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)
Olfactory lobe 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 0.0% (0 of 2)
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)
Prostate gland N/A heterozygote Not available
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
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 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)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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.

Adult LacZ

LacZ Images Section

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hypoplasia of penis, Hyperin... ORPHA:791
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism, Congenital adrenal hypoplasia OMIM:202150
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D OMIM:619481
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormality of vitamin A metabolism, Abnormality of vitamin E metabolism ORPHA:209902
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Imerslund-Grasbeck Syndrome 1
Vitamin B12 deficiency, Malabsorption of Vitamin B12 OMIM:261100
Formiminoglutamic Aciduria
Abnormality of folate metabolism, Increased blood folate concentration ORPHA:51208
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Retinal Detachment
Retinal detachment OMIM:180050
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:309031
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... ORPHA:753
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
47,Xyy Syndrome
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Maternal Uniparental Disomy Of Chromosome 4
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin K ORPHA:96180
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Vitamin D-Dependent Rickets, Type 3
Decreased circulating calcifediol concentration, Low serum calcitriol OMIM:619073
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Young Syndrome
Azoospermia OMIM:279000
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Abetalipoproteinemia
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D ORPHA:14
Shwachman-Diamond Syndrome
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:811
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Primary Sclerosing Cholangitis
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:171
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12 OMIM:261000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Increase... ORPHA:786
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Autosomal Recessive Polycystic Kidney Disease
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Low levels of vitamin K ORPHA:731
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Ataxia With Vitamin E Deficiency
Low levels of vitamin E OMIM:277460
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin A, Low levels of vitamin D OMIM:613658
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... ORPHA:352731
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Primary Intestinal Lymphangiectasia
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:90362
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol ORPHA:2788
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1 ORPHA:90646
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... OMIM:601152
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hypoplasia of penis, Hyperin... ORPHA:791
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Decreased methylcobalamin OMIM:236270
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:614857
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol OMIM:600785
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D ORPHA:89937
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:1933
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277410
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Reduced blood folate concentration, Low levels of vitamin D, Low levels o... OMIM:212750
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormality of visual evoked poten... ORPHA:52368
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... ORPHA:485421
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol ORPHA:157215
Bloom Syndrome
Oligospermia, Azoospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin OMIM:617780
Infantile Neuroaxonal Dystrophy
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of visual evoked potential... ORPHA:35069
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... OMIM:229300
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism ORPHA:541423
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
High serum calcitriol OMIM:241530
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy OMIM:616364
Vitamin D-Dependent Rickets, Type 2A
High serum calcitriol OMIM:277440
Congenital Disorder Of Glycosylation, Type Iit
Abnormal protein O-linked glycosylation, Low levels of vitamin D OMIM:618885
Congenital Bile Acid Synthesis Defect Type 2
Low levels of vitamin E ORPHA:79303
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... ORPHA:206443
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277380
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K OMIM:118650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Decreased adenosylcobalamin, Vitamin B12 deficiency, Decreased methylcobalamin ORPHA:79284
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol OMIM:300554
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613341
African Iron Overload
Low levels of vitamin C ORPHA:139507
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:480898
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of vitamin D metabolism, Low serum calcitriol ORPHA:289176
Dent Disease 1
High serum calcitriol OMIM:300009
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309263
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol ORPHA:289157
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Infantile Krabbe Disease
Optic atrophy, Abnormality of visual evoked potentials, Cherry red spot of the macula, Decreased ... ORPHA:206436
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Methylmalonic Aciduria, Cblb Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251110
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
Methylmalonic Aciduria, Cbla Type
Decreased adenosylcobalamin, Methylmalonic acidemia OMIM:251100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormality of vitamin metabolism, Low levels of vitamin D ORPHA:79408
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Micropenis, Cryptorchidism ORPHA:3310
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... ORPHA:309271
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of amino acid metabolism, Low levels of vitamin E ORPHA:309854
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased adenosylcobalamin, Methylmalonic acidemia, Decreased methylcobalamin OMIM:277400
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory responses ORPHA:79330
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Reduced blood folate concentration OMIM:301056
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Low levels of vitamin D ORPHA:89842
Mucopolysaccharidosis Type 3
Low levels of vitamin D ORPHA:581
Dent Disease
High serum calcitriol ORPHA:1652
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormality of visual evoked potentials, Abno... ORPHA:909
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Reti... OMIM:216400
Hypophosphatemic Rickets
Low levels of vitamin D, Low serum calcitriol ORPHA:437
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency OMIM:618922
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Oculocerebrorenal Syndrome Of Lowe
Low levels of vitamin D ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D ORPHA:79259
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decr... OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Irregular menstruatio... ORPHA:64
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:512
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Autosomal Dominant Cutis Laxa
Low levels of vitamin D ORPHA:90348
Congenital Erythropoietic Porphyria
Low levels of vitamin D ORPHA:79277
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level ORPHA:3261
Pearson Syndrome
Malabsorption of Vitamin B12 ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials ORPHA:667
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Low levels of vitamin D ORPHA:438213
Acute Transverse Myelitis
Vitamin B12 deficiency ORPHA:139417
Degcags Syndrome
Reduced blood folate concentration OMIM:619488
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Reduced blood folate concentration OMIM:219721

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 Lrat

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 Lrat.

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

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MGI Allele Allele Type Produced
Lrattm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lrattm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrattm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Lrattm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lrattm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Lrattm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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