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Gene: Khdrbs1 MGI:893579

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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

Order Alleles

IMPC Data Collections

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

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.

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
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus, Abnormality of the verte... OMIM:602475
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Sclerotic vertebral endplates, Clavicular scle... OMIM:615198
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness 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, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... OMIM:231095
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis, Sclerotic verte... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
Schnitzler Syndrome
Splenomegaly, Arthritis, Increased bone mineral density, Lymphadenopathy ORPHA:37748
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Stillbirth, Advanced ossification of carpal bones, Advanced tarsal os... OMIM:215045
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Failure to thrive, Osteopetrosis OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... OMIM:259700
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Cryptorchidis... ORPHA:628
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... OMIM:614856
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... ORPHA:163649
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Splenomegaly, Flexion contracture, Synov... ORPHA:77297
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98797
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Werner Syndrome
Increased bone mineral density, Miscarriage, Lipodystrophy, Lipoatrophy, Joint stiffness, Osteopo... ORPHA:902
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Hypersplenism, Kyphosis, Osteoarthritis, Splenomegaly... ORPHA:77259
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density ORPHA:1237
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size OMIM:614962
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... ORPHA:763
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... ORPHA:85188
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Kyphosis, Osteoporosi... OMIM:239000
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
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
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Osteopetrosis, Hepatosplenomegaly OMIM:612840
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Osteopetrosis, Scoliosis, Facial hyperostosis, Spi... ORPHA:2780
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
12Q14 Microdeletion Syndrome
Diabetes mellitus, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Failure to thrive ORPHA:94063
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull, P... OMIM:609993
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Decreased response to growth hormone stimulation test, Short neck... ORPHA:94089
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Dysostosis, Stanescu Type
Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken... ORPHA:1798
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Isochromosomy Yq
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size ORPHA:98798
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... OMIM:265800
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture... OMIM:614008
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomegaly, Stillbirt... OMIM:259720
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Increased bone mi... ORPHA:79474
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79444
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Increased circulating co... ORPHA:562
Desmosterolosis
Splenomegaly, Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79443
Schwartz-Jampel Syndrome
Short neck, Wrist flexion contracture, Death in infancy, Increased bone mineral density, Abnormal... ORPHA:800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... ORPHA:35687
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... OMIM:127000
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... ORPHA:91
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Kyphosis, Cryptorchidism, Cranial hyperostosis, Limitation of joi... ORPHA:2658
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly OMIM:259730
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe... OMIM:615238
Bone Marrow Failure Syndrome 6
Osteopenia, Hypothyroidism, Bone marrow hypocellularity OMIM:618849
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal synostosis, Sc... ORPHA:90652
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Raine Syndrome
Death in infancy, Increased bone mineral density, Short neck, Subperiosteal bone formation, Neona... OMIM:259775
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... ORPHA:2298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Mediastinal lymphadenopathy, Bone marrow hypocellularity OMIM:614742
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Bone marrow hypocellularity OMIM:617341
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Crypto... ORPHA:33364
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... ORPHA:77261
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Lymphadenopathy, ... ORPHA:47612
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in infancy, Splenomegaly, Osteopetrosis, Death in chil... OMIM:612301
Gaucher Disease
Osteopenia, Death in infancy, Increased bone mineral density, Osteomyelitis, Recurrent fractures,... ORPHA:355
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Sanjad-Sakati Syndrome
Hypoparathyroidism, Patchy osteosclerosis, Cryptorchidism, Spinal canal stenosis, Congenital hypo... ORPHA:2323
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... OMIM:269700
Greenberg Dysplasia
Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic vertebral bodi... OMIM:215140
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Platyspondyly ORPHA:50945
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... OMIM:119600
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... ORPHA:251510
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Sclerosteosis 1
Sclerotic scapulae, Irregular menstruation, Facial palsy secondary to cranial hyperostosis, Scler... OMIM:269500
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bifida oc... ORPHA:904
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Fused cervical vertebrae, Bone... OMIM:609053
Cranioectodermal Dysplasia 4
Bone marrow hypocellularity, Joint hypermobility, Sagittal craniosynostosis OMIM:614378
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypocellularity, Typ... OMIM:301078
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Osteoporosis, Bone marrow hypocellularity OMIM:613989
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Complete Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral ... ORPHA:99429
Rett Syndrome
Failure to thrive, Scoliosis, Increased serum leptin ORPHA:778
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Bone marrow hypocellularity, Osteopetrosis, Secondary hyperparathyroidism, F... ORPHA:2785
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Low back pain, Bone marrow hypocellularity, Splenomegaly ORPHA:86843
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Lymphadenopathy, Reduced bone mineral densit... ORPHA:667
Fanconi Anemia, Complementation Group D1
Failure to thrive, Bone marrow hypocellularity OMIM:605724
Amed Syndrome, Digenic
Failure to thrive, Bone marrow hypocellularity, Adrenal hypoplasia OMIM:619151
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Joint stiffness, L... ORPHA:740
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Osteoporosis, Bone marrow hypocellularity OMIM:613990
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Fanconi Anemia, Complementation Group R
Scoliosis, Bone marrow hypocellularity, Radial dysplasia OMIM:617244
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hypocellularity, Sco... OMIM:612199
Bone Marrow Failure Syndrome 3
Cryptorchidism, Reduced bone mineral density, Bone marrow hypocellularity, Failure to thrive, Joi... OMIM:617052
Adult-Onset Still Disease
Splenomegaly, Arthritis, Generalized lymphadenopathy, Bone marrow hypocellularity ORPHA:829
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Bone marrow hypocellularity OMIM:224230
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:3226
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Abnormality of thyroid physiology, Ovoid vertebr... ORPHA:1830
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Splenopancreatic fusion, Sc... OMIM:269150
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Flexion contracture, A... OMIM:227645
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Aplastic Anemia
Bone marrow hypocellularity OMIM:609135
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity OMIM:615715
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity OMIM:614675
Acute Erythroid Leukemia
Bone marrow hypocellularity ORPHA:318
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity OMIM:618674
Mucopolysaccharidosis-Plus Syndrome
Short neck, Splenomegaly, Flexion contracture, Bone marrow hypocellularity, Death in childhood OMIM:617303
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hepatosplenomegaly, L... ORPHA:85450
Diamond-Blackfan Anemia 11
Radioulnar synostosis, Bone marrow hypocellularity OMIM:614900
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity OMIM:609054
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Dyskeratosis Congenita
Diabetes mellitus, Recurrent fractures, Splenomegaly, Osteoporosis, Bone marrow hypocellularity, ... ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Bone marrow hypocellularity OMIM:127550
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Bone marrow hypocellularity, Large for gestational age OMIM:614520
Shwachman-Diamond Syndrome
Osteopenia, Diabetes mellitus, Osteomyelitis, Decreased response to growth hormone stimulation te... ORPHA:811
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Rickets, Weight ... OMIM:219800
Dyskeratosis Congenita, Autosomal Recessive 6
Failure to thrive, Bone marrow hypocellularity OMIM:616353
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Bone marrow... OMIM:603467
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Hepatosp... ORPHA:505248
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Chronic noninfectious lymphadenopathy, Eosinophilia, Hyperspleni... ORPHA:3261
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Panniculitis, Bone marrow hypocellu... OMIM:615688
Pgm3-Cdg
Bone marrow hypocellularity, Failure to thrive, Osteomyelitis, Eosinophilia ORPHA:443811
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Bloom Syndrome
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... ORPHA:125
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Fanconi Anemia, Complementation Group A
Small for gestational age, Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity OMIM:613988
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Cryptorchidism, Osteoporosis, Decreased testicular size OMIM:305000
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptorchidism, Synov... OMIM:163950
Leukocyte Adhesion Deficiency
Osteomyelitis, Bone marrow hypocellularity, Hyperinsulinemic hypoglycemia, Vaginitis, Coronal cra... ORPHA:2968
Cystic Fibrosis
Male infertility, Failure to thrive, Hepatosplenomegaly OMIM:219700

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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