Gene Summary

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

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
embryonic lethality prior to tooth bud stage Asf1atm1b(KOMP)Wtsi HOM   E12.5 0.00
increased circulating alkaline phosphatase level Asf1atm1b(KOMP)Wtsi HET Early adult 2.35×10-08
abnormal embryo turning Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
embryonic growth retardation Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
decreased thigmotaxis Asf1atm1b(KOMP)Wtsi HET Early adult 2.56×10-06
abnormal embryo size Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
preweaning lethality, complete penetrance Asf1atm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating insulin level Asf1atm1b(KOMP)Wtsi HET   Early adult 6.94×10-05
abnormal neural tube closure Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal embryo size Asf1atm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Asf1atm1b(KOMP)Wtsi HET E9.5 0.00
abnormal neural tube morphology Asf1atm1b(KOMP)Wtsi HOM E9.5 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
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 0.55% (3 of 550)
aorta 0.18% (1 of 566)
brain 0.92% (5 of 543)
brainstem 0.36% (2 of 563)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 563)
cerebellum 0.36% (2 of 561)
cerebral cortex 0.36% (2 of 558)
epididymis 13.77% (19 of 138)
esophagus 1.75% (7 of 400)
eye 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 561)
hypothalamus 0.35% (2 of 572)
kidney 4.84% (27 of 558)
large intestine 5.45% (31 of 569)
liver 0.0%
lower urinary tract 0.18% (1 of 561)
lung 0.36% (2 of 555)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 557)
ovary 0.18% (1 of 554)
oviduct 0.0%
pancreas 0.73% (4 of 545)
peripheral nervous system 0.36% (2 of 563)
peyers patch 0.0%
pituitary gland 0.18% (1 of 565)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 561)
small intestine 5.24% (30 of 573)
spinal cord 0.54% (3 of 558)
spleen 0.54% (3 of 553)
stomach 3.76% (21 of 558)
striatum 0.54% (3 of 555)
submandibular gland 1.44% (2 of 139)
testis 0.71% (4 of 563)
thalamus 0.0%
thymus 0.18% (1 of 564)
thyroid gland 2.84% (16 of 563)
trachea 0.54% (3 of 558)
urinary bladder 0.0%
uterus 0.18% (1 of 570)
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 1.15% (5 of 436)
dorsal root ganglion 1.89% (1 of 53)
ear 0.23% (1 of 434)
embryo 0.45% (2 of 444)
eye 0.23% (1 of 430)
footplate 0.0%
forebrain 0.23% (1 of 431)
forelimb 0.23% (1 of 435)
fronto-nasal process 2.04% (1 of 49)
handplate 0.23% (1 of 443)
head 0.7% (3 of 426)
heart 0.23% (1 of 437)
hindbrain 1.12% (5 of 448)
hindlimb 0.23% (1 of 443)
liver 0.23% (1 of 442)
lung 0.22% (1 of 453)
mandibular process 0.23% (1 of 444)
maxillary process 0.0%
midbrain 0.23% (1 of 435)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 424)
skin 0.22% (1 of 447)
spinal cord 1.43% (1 of 70)
tail 0.23% (1 of 440)
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

5 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
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Irritability OMIM:240800
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Ket... ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior ORPHA:329249
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... ORPHA:276575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... ORPHA:280356
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... ORPHA:552
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... ORPHA:2298
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Hyperg... ORPHA:79237
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia,... ORPHA:528
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... OMIM:246200
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Hypokalemia, ... ORPHA:769
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Insulin-resista... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... OMIM:248370
Prader-Willi Syndrome
Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... OMIM:176270
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulat... ORPHA:508
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Alg3-Cdg
Neural tube defect ORPHA:79321
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Elevated hemoglobin A1c, Decreased serum leptin, Ins... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hypertr... OMIM:608594
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Glycosuria, Hypertriglyceridemia, Abnormality of cir... ORPHA:79474
Tenorio Syndrome
Hypoglycemia, Anxiety, Hypoinsulinemia OMIM:616260
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Depression, Anx... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Depression, Anx... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Depression, Anx... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Depression, Anx... ORPHA:99226
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Semilobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Hydrocephalus, Neural tube defect, Short stature ORPHA:93924
Pmm2-Cdg
Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonadotropic hypogonadis... ORPHA:79318
Alström Syndrome
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... ORPHA:64
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia 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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter