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Gene: Asf1a MGI:1913653

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Gene Summary

Name:
anti-silencing function 1A histone chaperone
Synonyms:
2310079C17Rik

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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
increased circulating alkaline phosphatase level Asf1atm1b(KOMP)Wtsi HET Early adult 2.35×10-08
decreased thigmotaxis Asf1atm1b(KOMP)Wtsi HET Early adult 2.56×10-06
abnormal embryo turning Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
abnormal neural tube closure Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Asf1atm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic growth retardation Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
increased circulating insulin level Asf1atm1b(KOMP)Wtsi HET   Early adult 6.94×10-05
abnormal embryo size Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo size Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
embryonic lethality prior to tooth bud stage Asf1atm1b(KOMP)Wtsi HOM   E12.5 0.00
abnormal neural tube morphology Asf1atm1b(KOMP)Wtsi HOM E9.5 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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hypothalamus 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 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

9 Images

View images
Sleep Wake

Wake state (bmp file)

13 Images

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X-ray

XRay Images Forepaw

9 Images

View images
Adult LacZ

LacZ Images Section

24 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
Eye Morphology

Images Ophthalmoscopy

7 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

View images

Human diseases caused by Asf1a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Asf1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypoglycemia, Leucine-Induced
Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia OMIM:240800
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Aggressive behavior, Hyperlipidemia ORPHA:329249
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... ORPHA:324575
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Emotional ... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resis... ORPHA:280356
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Insulinoma
Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cells, Neuroendocr... ORPHA:97279
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Insulin resistance ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... ORPHA:71526
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglyc... OMIM:262190
Mody
Transient neonatal diabetes mellitus, Abnormal circulating insulin concentration, Diabetic ketoac... ORPHA:552
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... OMIM:615363
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism ORPHA:791
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, M... ORPHA:99886
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... ORPHA:263455
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating lipid concentration, Increased serum testosterone level, F... ORPHA:2298
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... ORPHA:293964
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hypoglycemia, Hyper... ORPHA:79237
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance ORPHA:363400
Estrogen Resistance Syndrome
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... ORPHA:785
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Insulin resistance, D... ORPHA:528
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-resist... ORPHA:2457
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Postprandial hyperglycemia, Pancreatic islet-cell hyperplas... OMIM:246200
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose int... OMIM:608612
Rabson-Mendenhall Syndrome
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... ORPHA:230
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Insulin-resistant... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Elevated circulating creatine kinase ... OMIM:613327
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... OMIM:151660
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Impaired glucose tolerance, Calcinosis, Hyperlipidemia, I... OMIM:248370
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Self... OMIM:176270
Steinert Myotonic Dystrophy
Hypercholesterolemia, Hyperinsulinemia, Aggressive behavior, Decreased response to growth hormone... ORPHA:273
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Insulin resistance, In... ORPHA:508
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Hypophosphatemic rickets, Recurrent hypoglycemia, Hypoinsulinemia, Reduced C-peptid... ORPHA:2126
Alg3-Cdg
Neural tube defect ORPHA:79321
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr... OMIM:269700
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Emotional lability, Anxiety OMIM:616260
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Diabete... OMIM:608594
Atypical Werner Syndrome
Hyperinsulinemia, Hypogonadism, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Neoplas... ORPHA:79474
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes mellitus, Thyroiditi... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes mellitus, Thyroiditi... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes mellitus, Thyroiditi... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Anxiety, Type II diabetes mellitus, Thyroiditi... ORPHA:99226
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, H... OMIM:619991
Semilobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Growth delay, Short stature, Neural tube defect ORPHA:93924
Pmm2-Cdg
Hyperinsulinemia, Increased circulating prolactin concentration, Elevated circulating thyroid-sti... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone... ORPHA:64
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect ORPHA:798
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Asf1a

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 Asf1a.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Asf1atm1b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Asf1atm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Asf1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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