Gene: Adcyap1r1 MGI:108449

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Gene Summary

Name:
adenylate cyclase activating polypeptide 1 receptor 1
Synonyms:
PACAP1-R,  PAC1,  PAC1R,  2900024I10Rik

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
preweaning lethality, incomplete penetrance Adcyap1r1tm1e.1(KOMP)Wtsi HOM   Early adult 0.00

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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  Wholemount images heterozygote 50% (2 of 4)
Bone  Wholemount images heterozygote Ambiguous
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Duodenum  Wholemount images heterozygote Ambiguous
Epididymis  Wholemount images heterozygote Not available
Gall bladder  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Ileum  Wholemount images heterozygote Ambiguous
Jejunum  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images heterozygote Ambiguous
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images heterozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote Not available
Parotid gland  Wholemount images heterozygote 0.0% (0 of 4)
Pituitary gland  Wholemount images heterozygote 0.0% (0 of 4)
Prostate gland  Wholemount images heterozygote Not available
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Spleen  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 0.0% (0 of 4)
Urinary bladder  Wholemount images heterozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Vagina  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Aorta N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Ambiguous
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 100% (4 of 4)
Colon N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Diaphragm N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote Ambiguous
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Ambiguous
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thalamus N/A heterozygote Ambiguous
Thymus N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (6 of 6)
N/A heterozygote 100% (6 of 6)
N/A heterozygote 100% (6 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 100% (6 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)
N/A heterozygote 0.0% (0 of 6)

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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)

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 Wholemount

135 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Embryo LacZ

LacZ images wholemount

10 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Human diseases caused by Adcyap1r1 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 Adcyap1r1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
OMIM:301008
Spermatogenic Failure 3
OMIM:606766
Spermatogenic Failure 17
OMIM:617214
Oocyte Maturation Defect 1
OMIM:615774
Oocyte Maturation Defect 3
OMIM:617712
Spermatogenic Failure 27
OMIM:617965
Oocyte Maturation Defect 4
OMIM:617743
Oocyte Maturation Defect 5
OMIM:617996
Severe Primary Trimethylaminuria
ORPHA:468726
Oocyte Maturation Defect 2
OMIM:616780
Intellectual Developmental Disorder, X-Linked 109
OMIM:309548
Female Infertility Due To Oocyte Meiotic Arrest
ORPHA:488191
Attention Deficit-Hyperactivity Disorder
OMIM:143465
Autism, Susceptibility To, X-Linked 4
OMIM:300830
Hyperinsulinemic Hypoglycemia, Familial, 3
OMIM:602485
Mannose-Binding Lectin Deficiency
OMIM:614372
Hyperinsulinemic Hypoglycemia, Familial, 5
OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
OMIM:256450
Mental Retardation, Autosomal Dominant 52
OMIM:617796
Mental Retardation, Autosomal Dominant 45
OMIM:617600
Hyperinsulinemic Hypoglycemia, Familial, 2
OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
ORPHA:293964
Premature Ovarian Failure 13
OMIM:617442
Premature Ovarian Failure 15
OMIM:618096
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
ORPHA:412066
Transient Neonatal Diabetes Mellitus
ORPHA:99886
Estrogen Resistance
OMIM:615363
Oocyte Maturation Defect 7
OMIM:618550
Oocyte Maturation Defect 6
OMIM:618353
Preimplantation Embryonic Lethality 1
OMIM:616814
Progesterone Resistance
OMIM:264080
Hyperinsulinemic Hypoglycemia, Familial, 4
OMIM:609975
Hyperinsulinism Due To Glucokinase Deficiency
ORPHA:79299
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
OMIM:616033
Mental Retardation, Autosomal Recessive 54
OMIM:617028
Schizophrenia 15
OMIM:613950
Epilepsy, Progressive Myoclonic, 12
OMIM:619191
Insulinomatosis And Diabetes Mellitus
OMIM:147630
Insulin Autoimmune Syndrome
ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
ORPHA:263458
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
DECIPHER:19
Mental Retardation, Autosomal Recessive 3
OMIM:608443
Premature Ovarian Failure 19
OMIM:619245
Plin1-Related Familial Partial Lipodystrophy
ORPHA:280356
Mental Retardation, Autosomal Recessive 37
OMIM:615493
Obesity Due To Congenital Leptin Deficiency
ORPHA:66628
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
OMIM:616657
Homozygous 11P15-P14 Deletion Syndrome
OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
ORPHA:324575
Neutropenia, Severe Congenital, 6, Autosomal Recessive
OMIM:616022
Immunodeficiency 31B
OMIM:613796
Obesity Due To Leptin Receptor Gene Deficiency
ORPHA:179494
Immunodeficiency 8
OMIM:615401
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
ORPHA:356996
Agammaglobulinemia 3, Autosomal Recessive
OMIM:613501
Myoclonus-Dystonia Syndrome
ORPHA:36899
Complement Component 7 Deficiency
OMIM:610102
Immunodeficiency 61
OMIM:300310
Spinocerebellar Ataxia 14
OMIM:605361
Agammaglobulinemia 2, Autosomal Recessive
OMIM:613500
Obsessive-Compulsive Disorder
OMIM:164230
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
OMIM:308220
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
OMIM:619326
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
ORPHA:401901
Obesity Due To Prohormone Convertase I Deficiency
ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
ORPHA:71529
Hyperproinsulinemia
OMIM:616214
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
ORPHA:276580
Hypoglycemia, Leucine-Induced
OMIM:240800
Gilles De La Tourette Syndrome
OMIM:137580
Huntington Disease-Like 2
OMIM:606438
Immunodeficiency 34
OMIM:300645
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
ORPHA:276608
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
ORPHA:3085
Immunodeficiency 30
OMIM:614891
Ovarian Dysgenesis 3
OMIM:614324
Complement Component 8 Deficiency, Type Ii
OMIM:613789
Dystonia 11, Myoclonic
OMIM:159900
Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM:605909
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
ORPHA:276575
Complement Factor D Deficiency
OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
ORPHA:70592
Hyperostosis Frontalis Interna
OMIM:144800
Asherman Syndrome
ORPHA:137686
Developmental And Epileptic Encephalopathy 43
OMIM:617113
Complement Component 6 Deficiency
OMIM:612446
Huntington Disease-Like 1
OMIM:603218
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
ORPHA:329249
Body Mass Index Quantitative Trait Locus 20
OMIM:618406
Myelolymphatic Insufficiency
OMIM:310350
Hyperinsulinemic Hypoglycemia, Familial, 6
OMIM:606762
Immunodeficiency, Common Variable, 5
OMIM:613495
Retinitis Pigmentosa
ORPHA:791
Smith-Magenis syndrome
DECIPHER:8
Lipodystrophy, Familial Partial, Type 3
OMIM:604367
Obesity Due To Sim1 Deficiency
ORPHA:369873
Pandas
ORPHA:66624
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
OMIM:242870
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
OMIM:262190
Immunodeficiency 51
OMIM:613953
Immunodeficiency 12
OMIM:615468
Dystonia 12
OMIM:128235
Leptin Deficiency Or Dysfunction
OMIM:614962
Juvenile Huntington Disease
ORPHA:248111
Mental Retardation, Autosomal Dominant 33
OMIM:616311
Hyperinsulinism-Hyperammonemia Syndrome
ORPHA:35878
Familial Partial Lipodystrophy, Köbberling Type
ORPHA:79084
Glycine Encephalopathy
OMIM:605899
Mody
ORPHA:552
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
OMIM:614868
Neutrophil Actin Dysfunction
OMIM:257150
Immunodeficiency 28
OMIM:614889
Immunodeficiency 38 With Basal Ganglia Calcification
OMIM:616126
Galactokinase Deficiency
ORPHA:79237
Polyendocrine-Polyneuropathy Syndrome
ORPHA:453533
Basal Ganglia Calcification, Idiopathic, 5
OMIM:615483
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
OMIM:307500
Insulinoma
ORPHA:97279
Estrogen Resistance Syndrome
ORPHA:785
Lennox-Gastaut Syndrome
ORPHA:2382
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
OMIM:604317
Cognitive Impairment With Or Without Cerebellar Ataxia
OMIM:614306
Specific Granule Deficiency 2
OMIM:617475
Congenital Generalized Lipodystrophy
ORPHA:528
Hyperinsulinism Due To Ucp2 Deficiency
ORPHA:276556
Ficolin 3 Deficiency
OMIM:613860
Agammaglobulinemia 6, Autosomal Recessive
OMIM:612692
Landau-Kleffner Syndrome
ORPHA:98818
Intellectual Developmental Disorder, X-Linked 72
OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
ORPHA:436151
Immunodeficiency 35
OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive
OMIM:613502
Phenylketonuria
OMIM:261600
Familial Hyperprolactinemia
ORPHA:397685
Mental Retardation, Autosomal Dominant 43
OMIM:616977
Fraxe Intellectual Disability
ORPHA:100973
Hypersecretion Of Adrenal Androgens, Familial
OMIM:145295
Encephalopathy, Progressive, With Or Without Lipodystrophy
OMIM:615924
Premature Ovarian Failure 1
OMIM:311360
Hyperprolinemia, Type I
OMIM:239500
Childhood Disintegrative Disorder
ORPHA:168782
Cortisone Reductase Deficiency 1
OMIM:604931
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
ORPHA:3077
Agammaglobulinemia 1, Autosomal Recessive
OMIM:601495
Insulin-Resistance Syndrome Type B
ORPHA:2298
Neutropenia, Severe Congenital, X-Linked
OMIM:300299
Microcephaly, Seizures, And Developmental Delay
OMIM:613402
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
ORPHA:275
Immunodeficiency With Hyper-Igm, Type 2
OMIM:605258
Premature Ovarian Failure 9
OMIM:615724
Insulin-Like Growth Factor I Deficiency
OMIM:608747
Hyperinsulinism Due To Hnf4A Deficiency
ORPHA:263455
Pregnancy Loss, Recurrent, Susceptibility To, 3
OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614389
Mannosidosis, Beta A, Lysosomal
OMIM:248510
Early-Onset Schizophrenia
ORPHA:96369
Donohue Syndrome
OMIM:246200
Sotos Syndrome 3
OMIM:617169
Pituicytoma
ORPHA:251623
Intellectual Developmental Disorder, X-Linked 101
OMIM:300928
Cd8 Deficiency, Familial
OMIM:608957
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
OMIM:243700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
ORPHA:319552
Alstrom Syndrome
OMIM:203800
Chromosome 3Q29 Deletion Syndrome
OMIM:609425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
OMIM:618090
Immunodeficiency, Common Variable, 4
OMIM:613494
Dystonia 26, Myoclonic
OMIM:616398
Bare Lymphocyte Syndrome, Type Ii
OMIM:209920
Intellectual Developmental Disorder, X-Linked 30
OMIM:300558
Intellectual Developmental Disorder, X-Linked 104
OMIM:300983
Bangstad Syndrome
ORPHA:1227
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
OMIM:617182
Coffin-Siris Syndrome 8
OMIM:618362
X-Linked Acrogigantism
ORPHA:300373
Griscelli Syndrome, Type 2
OMIM:607624
Xq25 Microduplication Syndrome
ORPHA:521258
Xq25 Duplication Syndrome
OMIM:300979
Perlman Syndrome
ORPHA:2849
Perry Syndrome
OMIM:168605
Hyperlysinemia, Type I
OMIM:238700
Mental Retardation, Autosomal Recessive 39
OMIM:615541
Glucocorticoid Resistance, Generalized
OMIM:615962
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
OMIM:307200
Prolactin Deficiency, Isolated
OMIM:264110
Isolated Follicle Stimulating Hormone Deficiency
ORPHA:52901
Prader-Willi Syndrome
OMIM:176270
Immunodeficiency, Common Variable, 3
OMIM:613493
Granulomatous disease with defect in neutrophil chemotaxis
OMIM:233670
Severe Neurodegenerative Syndrome With Lipodystrophy
ORPHA:363400
Premature Ovarian Failure 11
OMIM:616946
Premature Ovarian Failure 18
OMIM:619203
Aminoacylase 1 Deficiency
OMIM:609924
Complement Factor H Deficiency
OMIM:609814
Intellectual Developmental Disorder, X-Linked 107
OMIM:301013
Cln5 Disease
ORPHA:228360
Congenital Disorder Of Glycosylation, Type Ib
OMIM:602579
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
ORPHA:276
Complement Component 3 Deficiency, Autosomal Recessive
OMIM:613779
Succinic Semialdehyde Dehydrogenase Deficiency
OMIM:271980
Immunodeficiency By Defective Expression Of Mhc Class Ii
ORPHA:572
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
OMIM:612716
Short Fifth Metacarpals-Insulin Resistance Syndrome
ORPHA:66518
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515
Solitary Fibrous Tumor/Hemangiopericytoma
ORPHA:2126
X-Linked Intellectual Disability, Stocco Dos Santos Type
ORPHA:85288
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
OMIM:606367
Immunodeficiency, Common Variable, 2
OMIM:240500
Mental Retardation, X-Linked 77
OMIM:300454
Specific Granule Deficiency 1
OMIM:245480
Proprotein Convertase 1/3 Deficiency
OMIM:600955
Guanidinoacetate Methyltransferase Deficiency
ORPHA:382
Combined Immunodeficiency Due To Zap70 Deficiency
ORPHA:911
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616
Rasmussen Subacute Encephalitis
ORPHA:1929
Cernunnos-Xlf Deficiency
ORPHA:169079
Complement Factor B Deficiency
OMIM:615561
Female Restricted Epilepsy With Intellectual Disability
ORPHA:101039
Immunodeficiency With Hyper-Igm, Type 4
OMIM:608184
X-Linked Adrenoleukodystrophy
ORPHA:43
Mental Retardation, Autosomal Recessive 38
OMIM:615516
Perrault Syndrome 6
OMIM:617565
Immunodeficiency, Common Variable, 1
OMIM:607594
Clcn4-Related X-Linked Intellectual Disability Syndrome
ORPHA:485350
Akt2-Related Familial Partial Lipodystrophy
ORPHA:79085
Immunodeficiency With Hyper-Igm, Type 5
OMIM:608106
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
OMIM:618342
Selective Igm Deficiency
ORPHA:331235
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
OMIM:618718
Dopamine Beta-Hydroxylase Deficiency
ORPHA:230
Lipodystrophy, Congenital Generalized, Type 4
OMIM:613327
Gand Syndrome
OMIM:615074
Immunodeficiency 33
OMIM:300636
Mandibuloacral Dysplasia
ORPHA:2457
Omenn Syndrome
OMIM:603554
Mandibuloacral Dysplasia With Type B Lipodystrophy
OMIM:608612
Dihydropyrimidine Dehydrogenase Deficiency
OMIM:274270
Rabson-Mendenhall Syndrome
ORPHA:769
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
ORPHA:500180
Multiple Endocrine Neoplasia Type 4
ORPHA:276152
Whim Syndrome 1
OMIM:193670
Mirage Syndrome
OMIM:617053
Ck Syndrome
ORPHA:251383
Prolactinoma
ORPHA:2965
Adult Idiopathic Neutropenia
ORPHA:2688
Mental Retardation, Autosomal Recessive 61
OMIM:617773
Non-Functioning Pituitary Adenoma
ORPHA:91349
Functioning Gonadotropic Adenoma
ORPHA:91348
8p23.1 deletion syndrome
DECIPHER:39
Woodhouse-Sakati Syndrome
ORPHA:3464
Clark-Baraitser Syndrome
OMIM:617752
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
OMIM:300455
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
ORPHA:71212
Ck Syndrome
OMIM:300831
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
ORPHA:90793
Late Infantile Neuronal Ceroid Lipofuscinosis
ORPHA:168491
Immunodeficiency 47
OMIM:300972
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
ORPHA:457260
Immunodeficiency, Common Variable, 6
OMIM:613496
Infantile Neuroaxonal Dystrophy
ORPHA:35069
Neutropenia, Severe Congenital, 3, Autosomal Recessive
OMIM:610738
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
OMIM:147060
Immunodeficiency, Common Variable, 13
OMIM:616873
Immunodeficiency With Hyper-Igm, Type 3
OMIM:606843
Tenorio Syndrome
OMIM:616260
Combined Immunodeficiency Due To Crac Channel Dysfunction
ORPHA:169090
Neurodegeneration With Brain Iron Accumulation 2B
OMIM:610217
Pitt-Hopkins-Like Syndrome 1
OMIM:610042
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
OMIM:615824
Mandibuloacral Dysplasia With Type A Lipodystrophy
OMIM:248370
Gomez-Lopez-Hernandez Syndrome
OMIM:601853
Purine Nucleoside Phosphorylase Deficiency
OMIM:613179
Graves Disease, Susceptibility To, 1
OMIM:275000
46,Xy Sex Reversal 1
OMIM:400044
Optic Atrophy 11
OMIM:617302
Immune Deficiency Disease
OMIM:242850
Neutropenia, Severe Congenital, 1, Autosomal Dominant
OMIM:202700
Intellectual Developmental Disorder, X-Linked 21
OMIM:300143
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
OMIM:615286
X-Linked Severe Congenital Neutropenia
ORPHA:86788
Autosomal Dominant Severe Congenital Neutropenia
ORPHA:486
Acquired Generalized Lipodystrophy
ORPHA:79086
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
ORPHA:331206
Idiopathic Bronchiectasis
ORPHA:60033
Immunodeficiency 10
OMIM:612783
Atypical Werner Syndrome
ORPHA:79474
Immunodeficiency 27B
OMIM:615978
Vici Syndrome
OMIM:242840
Mental Retardation, Autosomal Dominant 7
OMIM:614104
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
OMIM:300958
Lipodystrophy, Congenital Generalized, Type 2
OMIM:269700
Leprechaunism
ORPHA:508
Symptomatic Form Of Fragile X Syndrome In Female Carrier
ORPHA:449291
Mucopolysaccharidosis, Type Iiib
OMIM:252920
Adenylosuccinase Deficiency
OMIM:103050
Immunodeficiency 21
OMIM:614172
Hypomagnesemia, Seizures, And Mental Retardation 2
OMIM:618314
Lipodystrophy, Congenital Generalized, Type 1
OMIM:608594
Immunodeficiency With Hyper-Igm, Type 1
OMIM:308230
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
ORPHA:369939
2Q23.1 Microdeletion Syndrome
ORPHA:228402
Tsh-Secreting Pituitary Adenoma
ORPHA:91347
Neutropenia, Severe Congenital, 4, Autosomal Recessive
OMIM:612541
Complement Factor I Deficiency
OMIM:610984
Myoclonic-Astatic Epilepsy
ORPHA:1942
Immunodeficiency 23
OMIM:615816
X-Linked Creatine Transporter Deficiency
ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
OMIM:300354
Turner Syndrome Due To Structural X Chromosome Anomalies
ORPHA:99413
Turner Syndrome
ORPHA:881
Mosaic Monosomy X
ORPHA:99228
Monosomy X
ORPHA:99226
Leukocyte Adhesion Deficiency
ORPHA:2968
Granulomatous Disease, Chronic, Autosomal Recessive, 1
OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
OMIM:233710
Leukocyte Adhesion Deficiency, Type Iii
OMIM:612840
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
OMIM:241410
Infantile Systemic Hyalinosis
ORPHA:2176
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
ORPHA:391307
Chromosome 2Q37 Deletion Syndrome
OMIM:600430
Primary Ciliary Dyskinesia
ORPHA:244
Lipodystrophy, Familial Partial, Type 2
OMIM:151660
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
ORPHA:90794
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
ORPHA:79259
Mental Retardation, Autosomal Recessive 13
OMIM:613192
Granulomatous Disease, Chronic, X-Linked
OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
OMIM:233690
Congenital Disorder Of Glycosylation, Type Iif
OMIM:603585
Immunodeficiency 36
OMIM:616005
Intellectual Developmental Disorder, Autosomal Recessive 71
OMIM:618504
Pgm3-Cdg
ORPHA:443811
Steinert Myotonic Dystrophy
ORPHA:273
Immunodeficiency 67
OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
OMIM:102700
Inverted Duplicated Chromosome 15 Syndrome
ORPHA:3306
Kenny-Caffey Syndrome, Type 1
OMIM:244460
Intellectual Disability, Birk-Barel Type
ORPHA:166108
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
OMIM:618430
Cri-Du-Chat Syndrome
OMIM:123450
Leukocyte Adhesion Deficiency, Type I
OMIM:116920
Chromosome 15Q25 Deletion Syndrome
OMIM:614294
Hypocomplementemic Urticarial Vasculitis
ORPHA:36412
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
ORPHA:98794
16P12.1P12.3 Triplication Syndrome
ORPHA:485405
Combined Immunodeficiency With Faciooculoskeletal Anomalies
ORPHA:221139
X-Linked Cerebral Adrenoleukodystrophy
ORPHA:139396
Shwachman-Diamond Syndrome
ORPHA:811
Neurodegeneration With Brain Iron Accumulation 1
OMIM:234200
Sickle Cell Anemia
OMIM:603903
Hermansky-Pudlak Syndrome 2
OMIM:608233
Choreoacanthocytosis
ORPHA:2388
Ectodermal Dysplasia And Immunodeficiency 1
OMIM:300291
Glass Syndrome
OMIM:612313
Glycogen Storage Disease Ib
OMIM:232220
Citrullinemia Type Ii
ORPHA:247585
13Q12.3 Microdeletion Syndrome
ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
OMIM:309520
Angelman Syndrome
ORPHA:72
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
ORPHA:363686
47,Xyy Syndrome
ORPHA:8
Chédiak-Higashi Syndrome
ORPHA:167
Chromomycosis
ORPHA:182
Insensitivity To Pain, Congenital, With Anhidrosis
OMIM:256800
Angelman Syndrome
OMIM:105830
Mucopolysaccharidosis, Type Iiic
OMIM:252930
Mannosidosis, Alpha B, Lysosomal
OMIM:248500
Complement Component 5 Deficiency
OMIM:609536
Neurodevelopmental Disorder With Or Without Autism Or Seizures
OMIM:619239
Whim Syndrome
ORPHA:51636
Alström Syndrome
ORPHA:64
Chediak-Higashi Syndrome
OMIM:214500
Mucopolysaccharidosis Type 3
ORPHA:581
Argininemia
OMIM:207800
Wiedemann-Steiner Syndrome
ORPHA:319182
Histidinemia
ORPHA:2157
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
OMIM:614756
Hyperthyroidism, Nonautoimmune
OMIM:609152
Spastic Paraplegia 29, Autosomal Dominant
OMIM:609727
Lysinuric Protein Intolerance
ORPHA:470
Tuberous Sclerosis Complex
ORPHA:805
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
ORPHA:2273
Mucopolysaccharidosis Type 2
ORPHA:580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
ORPHA:353281
Pmm2-Cdg
ORPHA:79318
Atrial Septal Defect, Ostium Secundum Type
ORPHA:99103
Familial Gestational Hyperthyroidism
ORPHA:99819
Atrial Septal Defect, Coronary Sinus Type
ORPHA:99104
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
ORPHA:424
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
ORPHA:447997
Hereditary Sensory And Autonomic Neuropathy Type 4
ORPHA:642

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 Adcyap1r1

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 Adcyap1r1.

No publications found that use IMPC mice or data for Adcyap1r1.

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MGI Allele Allele Type Produced
Adcyap1r1tm1e(KOMP)Wtsi Targeted, non-conditional allele Mice
Adcyap1r1tm91952(L1L2_Bact_P) Targeting vectors
Adcyap1r1tm1e.1(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Adcyap1r1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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