Gene: Rfx7 MGI:2442675
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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 | Rfx7tm2b(EUCOMM)Hmgu | HOM | Early adult | 0.00 | ||
decreased locomotor activity | Rfx7tm2b(EUCOMM)Hmgu | HET | Early adult | 7.80×10-05 | ||
abnormal retina morphology | Rfx7tm2b(EUCOMM)Hmgu | HET | Early adult | 3.05×10-09 | ||
decreased fasting circulating glucose level | Rfx7tm2b(EUCOMM)Hmgu | HET | Early adult | 5.49×10-05 | ||
decreased thigmotaxis | Rfx7tm2b(EUCOMM)Hmgu | HET | Early adult | 4.94×10-05 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | 100% (2 of 2) |
Aorta | Wholemount images | heterozygote | 100% (2 of 2) |
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Brainstem | Wholemount images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebellum | Wholemount images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Wholemount images | heterozygote | 100% (2 of 2) |
Esophagus | Wholemount images | heterozygote | 100% (2 of 2) |
Eye | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Hippocampus | Wholemount images | heterozygote | 100% (2 of 2) |
Hypothalamus | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Lower urinary tract | Wholemount images | heterozygote | 100% (2 of 2) |
Lung | Wholemount images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Wholemount images | heterozygote | 100% (2 of 2) |
Ovary | Wholemount images | heterozygote | 50% (1 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (1 of 2) |
Parathyroid gland | Wholemount images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Wholemount images | heterozygote | 100% (2 of 2) |
Skin | Wholemount images | heterozygote | 100% (2 of 2) |
Small intestine | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Striatum | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Thymus | Wholemount images | heterozygote | 100% (2 of 2) |
Trachea | Wholemount images | heterozygote | Ambiguous |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Vascular system | Wholemount images | heterozygote | 100% (2 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | Not available |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | homozygote | 100% (2 of 2) |
Ear | N/A | heterozygote | 50% (1 of 2) |
Ear | N/A | homozygote | 50% (1 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | homozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 50% (1 of 2) |
Eye | N/A | homozygote | 50% (1 of 2) |
Footplate | N/A | heterozygote | 50% (1 of 2) |
Footplate | N/A | homozygote | 50% (1 of 2) |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | homozygote | 100% (2 of 2) |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | homozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 50% (1 of 2) |
Handplate | N/A | homozygote | 50% (1 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | homozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 50% (1 of 2) |
Heart | N/A | homozygote | 50% (1 of 2) |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | homozygote | 100% (2 of 2) |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | homozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 50% (1 of 2) |
Liver | N/A | homozygote | 50% (1 of 2) |
Lung | N/A | heterozygote | 50% (1 of 2) |
Lung | N/A | homozygote | 50% (1 of 2) |
Mandibular process | N/A | heterozygote | 50% (1 of 2) |
Mandibular process | N/A | homozygote | 50% (1 of 2) |
Maxillary process | N/A | heterozygote | 50% (1 of 2) |
Maxillary process | N/A | homozygote | 50% (1 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Midbrain | N/A | homozygote | 100% (2 of 2) |
Oral cavity | N/A | heterozygote | 50% (1 of 2) |
Oral cavity | N/A | homozygote | 50% (1 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | homozygote | 50% (1 of 2) |
Tail somite | N/A | heterozygote | 50% (1 of 2) |
Tail somite | N/A | homozygote | 50% (1 of 2) |
Tail | N/A | heterozygote | 100% (2 of 2) |
Tail | N/A | homozygote | 100% (2 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.67% (4 of 598) |
aorta | 0.17% (1 of 598) |
bone | 0.0% |
brain | 0.84% (5 of 598) |
brainstem | 0.33% (2 of 598) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.17% (1 of 598) |
cerebellum | 0.5% (3 of 598) |
cerebral cortex | 0.33% (2 of 598) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
gall bladder | 0.0% |
heart | 0.33% (2 of 598) |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
kidney | 4.52% (27 of 598) |
large intestine | 5.35% (32 of 598) |
liver | 0.0% |
lower urinary tract | 0.17% (1 of 598) |
lung | 0.33% (2 of 598) |
lymph node | 0.17% (1 of 598) |
mammary gland | 0.0% |
olfactory lobe | 0.33% (2 of 598) |
oral epithelium | 0.0% |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
parathyroid gland | 0.17% (1 of 576) |
peripheral nervous system | 0.33% (2 of 598) |
peyers patch | 0.0% |
pituitary gland | 0.17% (1 of 598) |
prostate gland | 2.17% (13 of 598) |
skeletal muscle | 0.0% |
skin | 0.17% (1 of 598) |
small intestine | 5.35% (32 of 598) |
spinal cord | 0.5% (3 of 598) |
spleen | 0.5% (3 of 598) |
stomach | 3.68% (22 of 598) |
striatum | 0.5% (3 of 598) |
testis | 1% (6 of 598) |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
trachea | 0.5% (3 of 598) |
uterus | 0.33% (2 of 598) |
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 | 1.17% (6 of 511) |
ear | 0.2% (1 of 511) |
embryo | 0.39% (2 of 512) |
eye | 0.2% (1 of 511) |
footplate | 0.2% (1 of 511) |
forebrain | 0.2% (1 of 511) |
forelimb | 0.2% (1 of 511) |
handplate | 0.2% (1 of 511) |
head | 0.98% (5 of 511) |
heart | 0.2% (1 of 511) |
hindbrain | 1.17% (6 of 511) |
hindlimb | 0.2% (1 of 511) |
liver | 0.2% (1 of 506) |
lung | 0.2% (1 of 506) |
mandibular process | 0.2% (1 of 511) |
maxillary process | 0.2% (1 of 511) |
midbrain | 0.2% (1 of 511) |
oral cavity | 0.2% (1 of 506) |
skin | 0.2% (1 of 511) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
Human diseases caused by Rfx7 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 predicted to be associated to Rfx7 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Rfx7tm2b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Rfx7tm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Rfx7tm2e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Rfx7tm2c(EUCOMM)Hmgu | Wild type floxed exon (post-Flp) | Mice |
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