Gene Summary

Name:
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Synonyms:
1110007A14Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Kdelr2em1(IMPC)Bay HOM   Early adult 0.00
cleft palate Kdelr2em1(IMPC)Bay HOM E18.5 0.00
abnormal bone structure Kdelr2em1(IMPC)Bay HET Early adult 2.33×10-05
abnormal body wall morphology Kdelr2em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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.

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Human diseases caused by Kdelr2 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.

The table below shows human diseases associated to Kdelr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xxi
Osteoporosis OMIM:619131

The table below shows human diseases predicted to be associated to Kdelr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft palate, Non-midline cleft lip ORPHA:1991
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Gastroschisis, Cleft palate, Non-midline cleft lip ORPHA:2476
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Omphalocele, Cleft palate ORPHA:2736
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, High palate, Inguinal hernia, Cleft palate ORPHA:1135
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Osteogenesis Imperfecta, Type Xxi
Osteoporosis OMIM:619131

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 Kdelr2

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 Kdelr2.

No publications found that use IMPC mice or data for Kdelr2.

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MGI Allele Allele Type Produced
Kdelr2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kdelr2tm194878(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kdelr2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kdelr2em1(IMPC)Bay Exon Deletion Mice, Tissue

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