Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
KH domain containing, RNA binding, signal transduction associated 1
Synonyms:
p62,  Sam68

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Khdrbs1 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 Khdrbs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteomesopyknosis
Low back pain, Increased bone mineral density, Infertility OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus, Abnormality of the verte... OMIM:602475
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Sclerotic vertebral endplates, Failure to thrive, Increased bone mineral de... OMIM:615198
Buschke-Ollendorff Syndrome
Joint stiffness, Scoliosis, Flexion contracture, Osteopoikilosis OMIM:166700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Hyperinsulinemia OMIM:618406
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... OMIM:136300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ... OMIM:122860
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, I... ORPHA:210110
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Thickened cortex of long bones, Generalized osteosclerosis, ... OMIM:607634
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Limit... ORPHA:93284
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... OMIM:231095
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Osteopetrosis, Increased bone mineral density, Recur... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Osteopetrosis, Increased bone miner... OMIM:620366
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Stillbirth, Generalized osteosclerosis, Advanced ossification of c... OMIM:215045
Schnitzler Syndrome
Increased bone mineral density, Lymphadenopathy, Arthritis, Splenomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cort... OMIM:144750
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, S... OMIM:259700
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Osteopetrosis, Failure to thrive OMIM:615085
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Camurati-Engelmann Disease
Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Reduced subcutaneous adipose... OMIM:131300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... ORPHA:1782
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Increased bone mineral density, Joint hypermobility, Decreased body weight, Kyphos... OMIM:614856
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Delayed patellar ossification, Short neck, Abnormal bone ossificati... ORPHA:163649
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Splenomegaly, Synovitis,... ORPHA:77297
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density OMIM:616943
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, J... ORPHA:628
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Poems Syndrome
Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of hand bone, Hy... ORPHA:2905
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:94089
Werner Syndrome
Secondary amenorrhea, Hypogonadism, Slender build, Joint stiffness, Thyroid carcinoma, Type II di... ORPHA:902
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Pycnodysostosis
Coronal craniosynostosis, Spondylolysis, Decreased response to growth hormone stimulation test, H... ORPHA:763
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly, Osteopetrosis,... OMIM:259710
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... ORPHA:53
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Failure to thrive, Increased bone mineral density, Ankylosis, Osteoporosis,... OMIM:239000
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Vertebral arch anomaly, Increased bone mineral density, Thin bony cortex ORPHA:85184
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Osteopetrosis, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Osteolysis ORPHA:391
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Spina bifida occulta, Osteopetrosis, H... ORPHA:2780
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle... OMIM:609993
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio... OMIM:618476
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
12Q14 Microdeletion Syndrome
Failure to thrive, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Diabetes mellitus ORPHA:94063
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Isochromosomy Yp
Azoospermia, Primary gonadal insufficiency, Male infertility ORPHA:98797
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Short neck, Hyperlordosis, Increased bone mineral density... ORPHA:1798
Dysosteosclerosis
Platyspondyly, Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil... OMIM:224300
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Increased bone mineral density, Osteolytic defects of the dista... OMIM:265800
Classic Galactosemia
Premature ovarian insufficiency, Decreased serum insulin-like growth factor 1, Delayed puberty, D... ORPHA:79239
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly OMIM:618541
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Male infertility, Reduced... OMIM:619044
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cranial hyperostosis, Hepatosplenomegaly, Splenomegaly, Osteopetrosis, Decreased oste... OMIM:259720
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin, Primary amenorrhea OMIM:614962
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Weight loss, Increased bone mineral density, Diabet... ORPHA:35687
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... OMIM:127000
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... ORPHA:79444
Isochromosomy Yq
Azoospermia, Primary gonadal insufficiency, Male infertility ORPHA:98798
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Failure to thrive, Splenomegaly ORPHA:35107
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Genera... ORPHA:79474
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Abnorma... OMIM:620103
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... ORPHA:79443
Schwartz-Jampel Syndrome
Spinal rigidity, Platyspondyly, Shoulder flexion contracture, Kyphosis, Joint stiffness, Hip cont... ORPHA:800
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Bone marrow hypocellularity, Aneurysmal bone cyst, In... ORPHA:562
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Pathologic fracture, Decreased serum leptin, Joint stiffness, Mandibular osteo... OMIM:614008
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Hypogonadism, Abnormal c... ORPHA:2658
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Osteopenia, Mediastinal lymphadenopathy OMIM:614742
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Hypothyroidism OMIM:618849
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Increa... ORPHA:90652
Raine Syndrome
Death in infancy, Neonatal death, Short neck, Subperiosteal bone formation, Increased bone minera... OMIM:259775
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Female infertility, Male infertility, Obesity, Eunuc... ORPHA:91
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in childhood, Death in infancy, Splenomegaly, Femur fr... OMIM:612301
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Bone marrow hypocellularity, Osteopenia OMIM:617341
Gaucher Disease Type 3
Increased susceptibility to fractures, Splenomegaly, Delayed puberty, Increased bone mineral dens... ORPHA:77261
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Congenital hypopara... OMIM:241410
Trichothiodystrophy
Osteopenia, Absence of subcutaneous fat, Multiple joint contractures, Reduced social reciprocity,... ORPHA:33364
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Splenomegaly, Synovitis, Weight loss, ... ORPHA:47612
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Sandwich appearance of ve... OMIM:620558
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Gaucher Disease
Splenic infarction, Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ... ORPHA:355
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Fa... OMIM:602398
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Increased adipose tissue around the neck, Increased facial adipose t... ORPHA:280365
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Generalized osteosclerosis, Ar... ORPHA:89936
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Sanjad-Sakati Syndrome
Hypoparathyroidism, Patchy osteosclerosis, Congenital hypoparathyroidism, Spinal canal stenosis ORPHA:2323
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Increased adipose tissue around the neck, Insulin-resistant diabetes... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, L... ORPHA:79085
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:309120
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Irregular menstruation, Lipodystrophy, Decreased serum leptin, Diabe... OMIM:615238
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Decreased skull ... OMIM:215140
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density, Platyspondyly ORPHA:50945
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Increased susceptibility to fr... OMIM:119600
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Failure to thrive ORPHA:416
Sclerosteosis 1
Irregular menstruation, Facial palsy secondary to cranial hyperostosis, Sclerotic vertebral endpl... OMIM:269500
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Williams Syndrome
Synostosis of joints, Death in early adulthood, Type II diabetes mellitus, Overfriendliness, Radi... ORPHA:904
Cranioectodermal Dysplasia 4
Bone marrow hypocellularity, Sagittal craniosynostosis, Joint hypermobility OMIM:614378
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Obesity, Hyperinsulinemia OMIM:617885
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Decreased bod... OMIM:609053
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Failure to thrive, Death in childhood, Decreased pineal volume OMIM:301108
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:301078
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Osteoporosis, Failure to thrive OMIM:613989
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Decreased ferti... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Splenomegaly, Cystic angiomatosis of bone,... OMIM:608594
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Male infertility, Abse... ORPHA:251510
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, Failure to thrive OMIM:605724
Acute Panmyelosis With Myelofibrosis
Low back pain, Myelofibrosis, Bone marrow hypocellularity, Splenomegaly ORPHA:86843
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Osteopetrosis, Lymphadenopathy, Craniosynostosis, Reduced bone mineral density, Rec... ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Failure to thrive, Recurrent fractures, Osteopetrosis, Secondary hyp... ORPHA:2785
Amed Syndrome, Digenic
Bone marrow hypocellularity, Adrenal hypoplasia, Failure to thrive OMIM:619151
47,Xyy Syndrome
Azoospermia, Reduced social reciprocity, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Scoliosis, Radial dysplasia OMIM:617244
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Abnormal circulating f... ORPHA:99429
Adult-Onset Still Disease
Bone marrow hypocellularity, Splenomegaly, Weight loss, Generalized lymphadenopathy, Lymphadenopa... ORPHA:829
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Osteoporosis OMIM:224230
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Increased susceptibility to fractur... OMIM:612199
Ziegler-Huang Syndrome
Hypogonadism, Bone marrow hypocellularity, Elevated circulating follicle stimulating hormone leve... OMIM:620501
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Sclerosis of skull base, Thickened cortex of ... OMIM:269150
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Reduced bone mineral density, Failure to thrive, Joint hypermobility OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Osteopenia, Bone marrow hypocellularity OMIM:613990
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Anterior wedging of T12, Flexion contracture, Small for gestational ... OMIM:227645
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Male sexual dysfunction, Abnormal circulating est... ORPHA:90797
Cystic Fibrosis
Osteopenia, Decreased body mass index, Failure to thrive, Osteoporosis, Male infertility ORPHA:586
Hutchinson-Gilford Progeria Syndrome
Limitation of joint mobility, Limited hip movement, Joint stiffness, Decreased serum leptin, Abse... ORPHA:740
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Osteoporosis OMIM:127550
Dyskeratosis Congenita
Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Splenomegaly, Osteoporosis, Sc... ORPHA:1775
Rett Syndrome
Increased serum leptin, Scoliosis, Failure to thrive ORPHA:778
Cystinosis, Nephropathic
Male hypogonadism, Rickets, Failure to thrive, Failure to thrive in infancy, Hypophosphatemic ric... OMIM:219800
Shwachman-Diamond Syndrome
Osteopenia, Bone marrow hypocellularity, Failure to thrive, Hypopituitarism, Osteomyelitis, Decre... ORPHA:811
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Thyroid adenoma, Hypersplenism, Thyroid carcinoma, Chronic noninfect... ORPHA:3261
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180

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 Khdrbs1

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 Khdrbs1.

No publications found that use IMPC mice or data for Khdrbs1.

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.

MGI Allele Allele Type Produced
Khdrbs1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Khdrbs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Khdrbs1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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