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Gene: Creld2 MGI:1923987

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Gene Summary

Name:
cysteine-rich with EGF-like domains 2
Synonyms:
5730592L21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Creld2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
thick ventricular wall Creld2tm1b(EUCOMM)Hmgu HOM Early adult 3.87×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (6 of 6)
Aorta N/A heterozygote 33.33% (2 of 6)
Bone N/A heterozygote 0.0% (0 of 6)
Brain N/A heterozygote 100% (6 of 6)
Brainstem N/A heterozygote 66.67% (4 of 6)
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote 83.33% (5 of 6)
Cerebellum N/A heterozygote 100% (6 of 6)
Cerebral cortex N/A heterozygote 100% (6 of 6)
Esophagus N/A heterozygote 16.67% (1 of 6)
Eye N/A heterozygote 0.0% (0 of 6)
Gall bladder N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 100% (6 of 6)
Hippocampus N/A heterozygote 100% (6 of 6)
Hypothalamus N/A heterozygote 100% (6 of 6)
Kidney N/A heterozygote 100% (6 of 6)
Large intestine N/A heterozygote 0.0% (0 of 6)
Liver N/A heterozygote 83.33% (5 of 6)
Lower urinary tract N/A heterozygote 100% (6 of 6)
Lung N/A heterozygote 83.33% (5 of 6)
Lymph node N/A heterozygote 0.0% (0 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Olfactory lobe N/A heterozygote 66.67% (4 of 6)
Oral epithelium N/A heterozygote 16.67% (1 of 6)
Ovary N/A heterozygote 0.0% (0 of 6)
Oviduct N/A heterozygote 50% (3 of 6)
Pancreas N/A heterozygote 100% (6 of 6)
Parathyroid gland N/A heterozygote 100% (6 of 6)
Peripheral nervous system N/A heterozygote 100% (6 of 6)
Peyer's patch N/A heterozygote 0.0% (0 of 6)
Pituitary gland N/A heterozygote 83.33% (5 of 6)
Prostate gland N/A heterozygote 50% (3 of 6)
Skeletal muscle N/A heterozygote 0.0% (0 of 6)
Skin N/A heterozygote 0.0% (0 of 6)
Small intestine N/A heterozygote 0.0% (0 of 6)
Spinal cord N/A heterozygote 66.67% (4 of 6)
Spleen N/A heterozygote 0.0% (0 of 6)
Stomach N/A heterozygote 100% (6 of 6)
Striatum N/A heterozygote 100% (6 of 6)
Testis N/A heterozygote 50% (3 of 6)
Thymus N/A heterozygote 0.0% (0 of 6)
Thyroid gland N/A heterozygote 83.33% (5 of 6)
Trachea N/A heterozygote 100% (6 of 6)
Uterus N/A heterozygote 50% (3 of 6)
Vascular system N/A heterozygote 0.0% (0 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 75% (3 of 4)
Brain N/A homozygote 66.67% (2 of 3)
Ear N/A heterozygote Not available
Ear N/A homozygote 33.33% (1 of 3)
Embryo N/A heterozygote 75% (3 of 4)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 75% (3 of 4)
Eye N/A homozygote 66.67% (2 of 3)
Footplate N/A heterozygote 75% (3 of 4)
Footplate N/A homozygote 66.67% (2 of 3)
Forebrain N/A heterozygote 75% (3 of 4)
Forebrain N/A homozygote 66.67% (2 of 3)
Forelimb N/A heterozygote 75% (3 of 4)
Forelimb N/A homozygote 66.67% (2 of 3)
Handplate N/A heterozygote 75% (3 of 4)
Handplate N/A homozygote 66.67% (2 of 3)
Head N/A heterozygote 75% (3 of 4)
Head N/A homozygote 100% (3 of 3)
Heart N/A heterozygote Not available
Heart N/A homozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 75% (3 of 4)
Hindbrain N/A homozygote 66.67% (2 of 3)
Hindlimb N/A heterozygote 75% (3 of 4)
Hindlimb N/A homozygote 66.67% (2 of 3)
Liver N/A heterozygote Not available
Liver N/A homozygote 33.33% (1 of 3)
Lung N/A heterozygote Not available
Lung N/A homozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 75% (3 of 4)
Midbrain N/A homozygote 66.67% (2 of 3)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote 33.33% (1 of 3)
Skin N/A heterozygote Not available
Skin N/A homozygote 33.33% (1 of 3)
Tail somite N/A heterozygote 75% (3 of 4)
Tail somite N/A homozygote 33.33% (1 of 3)
Tail N/A heterozygote 75% (3 of 4)
Tail N/A homozygote 33.33% (1 of 3)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Hind Leg and Hip

20 Images

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Echo

M-Mode Images

68 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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Embryo LacZ

LacZ images wholemount

5 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Creld2 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 Creld2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
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 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
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
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
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
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 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
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
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 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
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
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
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
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
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
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
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
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 32
Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Splenomegaly, Hepatomegaly, Hyperchole... OMIM:612526
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Delayed puberty, Truncal obesity, Growth delay ORPHA:140941
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
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
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
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
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Abdominal obesity, Diabetes mellitus OMIM:615980
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... ORPHA:79085
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism, Insulin-resistant diabetes mellitus, Hypertriglyce... ORPHA:436182
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E... OMIM:615381
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hyperchole... ORPHA:528
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ... OMIM:620438
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos... ORPHA:79083
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Seckel Syndrome 10
Severe short stature, Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating as... OMIM:617253
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,... ORPHA:435660
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cir... ORPHA:79086
Osteogenesis Imperfecta, Type Xxiii
Short stature, Truncal obesity, Insulin resistance OMIM:620639
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Postnatal growth retardation, Intrauterine g... ORPHA:73272
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Medullary Thyroid Carcinoma
Weight loss, Abnormal liver parenchyma morphology ORPHA:1332
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Placental Insufficiency
Insulin resistance, Intrauterine growth retardation, Small for gestational age, Proportionate sho... ORPHA:439167
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility OMIM:620103
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Male infertility OMIM:619607
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hepatic steatosis, Hyp... ORPHA:91
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella OMIM:620197
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Oligozoospermia, Male infertility ORPHA:48
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Aplasia/... ORPHA:456312
Monosomy 13Q34
Insulin resistance, Obesity, Growth delay, Hepatic steatosis ORPHA:96168
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Small for gestational age, Failure to thrive OMIM:214150
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Short stature, Eosinophilic liver infiltration OMIM:618999
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Whipple Disease
Insulin resistance, Hepatomegaly, Cachexia, Splenomegaly ORPHA:3452
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility OMIM:618086
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retar... OMIM:269880
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Obesity, Biliary tract abnormality, Truncal obesity, Abdomi... OMIM:209900
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Postnatal growth retard... ORPHA:813
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:280365
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Postnatal ... ORPHA:508
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepat... ORPHA:435651
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Familial Peripheral Male-Limited Precocious Puberty
Oligozoospermia, Male infertility ORPHA:3000
Short Syndrome
Severe short stature, Weight loss, Diabetes mellitus, Insulin resistance ORPHA:3163
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ... OMIM:260370
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Situs inversus totalis, Male infertility OMIM:614874
Werner Syndrome
Short stature, Slender build, Type II diabetes mellitus, Insulin resistance ORPHA:902
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Disproportionate short-limb short stature, Intrauterine growth retardation, T... OMIM:616541
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardat... ORPHA:96182
Marbach-Rustad Progeroid Syndrome
Short stature, Intrauterine growth retardation, Growth delay, Insulin resistance OMIM:619322
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Situs inversus totalis, Male infertility, Reduced sperm motility OMIM:613807
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Recurrent p... OMIM:606721
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Type II dia... ORPHA:358
Diaphanospondylodysostosis
Intrauterine growth retardation, Disproportionate short-trunk short stature, Abnormal liver lobul... OMIM:608022
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short stature, Hyperlipidemia, Delayed puberty, Insulin resistance ORPHA:90154
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short stature, Hyperlipidemia, Insulin resistance ORPHA:90153
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ob... ORPHA:110
Bloom Syndrome
Insulin resistance, Intrauterine growth retardation, Severe postnatal growth retardation, Abdomin... ORPHA:125
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A... ORPHA:244
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility OMIM:614935
Thalidomide Embryopathy
Short stature, Insulin resistance ORPHA:3312
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hype... ORPHA:273
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Decreased body weight, Pancreatitis, Short stature, ... OMIM:620371
Alström Syndrome
Elevated gamma-glutamyltransferase level, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes ... ORPHA:64
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Weight loss, Abnormal liver paren... ORPHA:797
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Male infertility OMIM:244400
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Severe failure to thrive, Weight loss ORPHA:740
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79318
Partial Androgen Insensitivity Syndrome
Azoospermia, Male sexual dysfunction, Male infertility, Primary amenorrhea ORPHA:90797
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation OMIM:175050
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... ORPHA:774
Juvenile Polyposis Syndrome
Failure to thrive, Hepatic arteriovenous malformation, Extrahepatic portal hypertension, Growth d... ORPHA:2929
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cirrhosis, Hepatic arteriovenous malformation OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cirrhosis, Hepatic arteriovenous malformation OMIM:187300

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 Creld2

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 Creld2.

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

Title Journal IMPC Allele PubMed ID
CRELD2 Is a Novel LRP1 Chaperone That Regulates Noncanonical WNT Signaling in Skeletal Development. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (April 2020) Creld2tm1c(EUCOMM)Hmgu Creld2tm1a(EUCOMM)Hmgu 32181934

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
Creld2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Creld2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Creld2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Creld2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Creld2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Creld2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Creld2tm1c(EUCOMM)Hmgu Wild type floxed exon (post-Flp) Mice

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