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Allele Symbol Allele Name Allele ID |
Srsf3tm1Pjln targeted mutation 1, Peter J Nielsen MGI:2669749 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• strong reduction in number of B cell precursors is seen in bone marrow
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• drastic reductions in B cell number are found in spleen, thymus, and bone marrow
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• drastic reduction in pre-B cells indicates that Sfrs3 is required for pre-B cell survival
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• strong reduction in number of B cell precursors is seen in bone marrow
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• drastic reductions in B cell number are found in spleen, thymus, and bone marrow
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• drastic reduction in pre-B cells indicates that Sfrs3 is required for pre-B cell survival
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is only a mild effect on B cell numbers
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• there is only a mild effect on B cell numbers
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased apoptosis of cranial neural crest cells that is slight at E8.0, over 30-fold at E9.5 and 4-fold at E10.5
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• considerable at E8.0, modest at E9.5, and 4-fold at E10.5
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• reduced intensity of reporter expressing cells in the frontonasal prominence and pharyngeal arch 1 at E9.5 and throughout the facial processes at E10.5
• absence of obvious NCC streams entering the pharyngeal arches at E10.5
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• decreased apoptosis of cranial neural crest cells that is slight at E8.0, over 30-fold at E9.5 and 4-fold at E10.5
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• considerable at E8.0, modest at E9.5, and 4-fold at E10.5
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• reduced intensity of reporter expressing cells in the frontonasal prominence and pharyngeal arch 1 at E9.5 and throughout the facial processes at E10.5
• absence of obvious NCC streams entering the pharyngeal arches at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• many pups die perinatally
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• fewer than the expected Mendelian ratio of pups is seen at weaning (only 17 out of 277 total pups)
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• mice fed a high-fat diet are slightly leaner than wild-type mice, although both show hepatic steatosis
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• pups are smaller at 2 days of age
• surviving mice have reduced body mass at 1 month of age, however by 4 months of age, mice weight the same as wild-type mice
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• 30% increase in apoptosis in livers at 1 month of age
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• reduction in the number of binuclear hepatocytes and tetraploidy suggest impaired hepatic differentiation and maturation
• livers show continued presence of hematopoietic cells at 1 month of age unlike in wild-type mice which show only residual CD45-positive hematopoietic cells, however, numbers of circulating blood cells are normal indicating a defect in hepatocyte maturation rather than increase in extramedullary hematopoiesis
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• livers of surviving mice exhibit a roughened surface and multiple small nodules
• architecture of the liver is disturbed with large irregular hepatocytes, compressed sinusoidal spaces and bile canaliculi and clusters of small hematopoietic cells
• decrease in lipid droplets in the liver of 1 month old mice
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• compressed sinusoidal spaces
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• 60% decrease in stored glycogen in the liver
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• decrease in cholesterol in the liver at 1 month of age but not at 4 months of age
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• mice fed a high-fat diet do not show an increase in hepatic triglyceride levels as is seen in wild-type mice
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• compressed bile canaliculi
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• hepatocytes are larger with irregularly sized nuclei and dense mitotic figures
• reduction in the number of binuclear hepatocytes and tetraploidy suggesting impaired hepatic differentiation and maturation
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• surviving mice have smaller livers at 1 month of age
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• surviving mice have pale livers at 1 month of age
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• decrease in fatty acid oxidation in the liver
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• mice fed a high-fat diet are slightly leaner than wild-type mice, although both show hepatic steatosis
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• mice exhibit fasting-induced hypoglycemia at 1 month of age however, fasting insulin levels are normal
• by 4 months of age, fasting blood glucose levels are normal
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• serum cholesterol is lower at 1 month of age on a normal diet and at 4 months of age on the high-fat diet
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• at 1 month of age
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• serum triglyceride levels are lower on a normal diet and are unchanged on a high-fat diet
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• total serum protein is decreased due to a 30% decrease in serum albumin
• however, blood urea nitrogen, calcium, and creatinine are normal
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• glucose tolerance tests at 4 months of age in mice fed a low-fat diet for 12 weeks show decreased glucose at 15 min but normal values at subsequent times
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• 60% decrease in stored glycogen in the liver
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• insulin tolerance tests at 4 months of age in mice fed a low-fat diet for 12 weeks show increased insulin sensitivity and an inability to correct insulin-induced hypoglycemia
• mice fed a high-fat diet for 12 weeks show increased insulin sensitivity compared to wild-type mice, with a greater drop in blood glucose during the insulin tolerance test
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• decrease in cholesterol in the liver at 1 month of age but not at 4 months of age
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• mice fed a high-fat diet do not show an increase in hepatic triglyceride levels as is seen in wild-type mice
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• compressed sinusoidal spaces
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• the rough endoplasmic reticulum (ER) is dilated in the liver, indicating ER stress
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• 30% increase in apoptosis in livers at 1 month of age
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• decrease in fatty acid oxidation in the liver
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• impaired thymic development
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• impaired thymic development
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• impaired thymic development
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• impaired kidney development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die between E12.5 and P0
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• no live pups at birth
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• at E18.5
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• absence of the processus styloidus cartilage at E18.5
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• at E18.5
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• hypoplastic and clefted at E18.5
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• hypoplastic and clefted at E18.5
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• at E18.5
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• at E18.5
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• hypoplastic at E18.5
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• hypoplasia of the zygomatic process of the squamosal bone
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• at E18.5
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• not ossified in 2 and hypoplastic in the third of three mice that survived to E18.5
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• hypoplastic at E18.5
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• hypoplastic at E18.5
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• at E18.5
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• hypoplastic at E18.5
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• hypoplastic at E18.5
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• at E18.5 facial bones and cartilages tend to be hypoplastic in the 3 surviving mice
• elements in the middle of the face are more severely affected
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• at E18.5
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• at E18.5 hypoplastic with clefting in one
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• at E18.5 hypoplasia of the premaxilla and frontal process of the premaxilla
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• at E18.5
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• at E18.5
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• widening of the space between the nasal pits at E10.5
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• facial subepidermal blebbing at E14.5 and facial hemorrhaging at E10.5 in some embryos
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• at E18.5
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• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones
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• in 2 of 3 surviving mice at E18.5
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• at E18.5
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• at E12.5
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• hypoplastic facial processes at E10.5
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• at E12.5 and at E14.5
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• at E12.5 the medial nasal process fail to fuse at the midline
• clefting is more pronounced at E14.5 with a striking cleft at the midline of the upper jaw and subtler cleft in the mandible
• at E18.5 the anterior part of the face is cleft in 3 surviving embryos
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• at E18.5
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• at E11.5 in 19% of embryos
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• at E10.5
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• at E12.5
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• misshapen at E12.5
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• at E10.5 and E14.5
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• at E12.5
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• at E14.5
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• facial hemorrhaging in a third of embryos at E10.5
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• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones
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• in 2 of 3 surviving mice at E18.5
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• at E18.5
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• at E12.5
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• at E12.5 and at E14.5
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• at E11.5 in 19% of embryos
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• at E18.5
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• widening of the space between the nasal pits at E10.5
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• at E18.5
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• at E18.5
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• misshapen and occasionally fused at E18.5
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• absence of the processus styloidus cartilage at E18.5
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• at E18.5
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• hypoplastic and clefted at E18.5
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• hypoplastic and clefted at E18.5
|
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• at E18.5
|
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• at E18.5
|
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• hypoplastic at E18.5
|
|
• hypoplasia of the zygomatic process of the squamosal bone
|
|
• at E18.5
|
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• not ossified in 2 and hypoplastic in the third of three mice that survived to E18.5
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• hypoplastic at E18.5
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• hypoplastic at E18.5
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• at E18.5
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• hypoplastic at E18.5
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• hypoplastic at E18.5
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• at E18.5
|
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• at E18.5 facial bones and cartilages tend to be hypoplastic in the 3 surviving mice
• elements in the middle of the face are more severely affected
|
|
• at E18.5
|
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• at E18.5 hypoplastic with clefting in one
|
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• at E18.5 hypoplasia of the premaxilla and frontal process of the premaxilla
|
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• at E18.5
|
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• at E18.5
|
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• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones
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• in 2 of 3 surviving mice at E18.5
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• at E18.5
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• hypoplasia of the middle ear cartilages at E18.5
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• at E18.5
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• at E18.5
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• at E18.5
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• misshapen and occasionally fused at E18.5
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• facial subepidermal blebbing at E14.5 and facial hemorrhaging at E10.5 in some embryos
|
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• at E18.5
|
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• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones
|
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• in 2 of 3 surviving mice at E18.5
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• at E18.5
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• at E12.5
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• hypoplastic facial processes at E10.5
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• at E12.5 and at E14.5
|
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• at E12.5 the medial nasal process fail to fuse at the midline
• clefting is more pronounced at E14.5 with a striking cleft at the midline of the upper jaw and subtler cleft in the mandible
• at E18.5 the anterior part of the face is cleft in 3 surviving embryos
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• in 3 mice surviving to E18.5
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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