Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rettm2(RET)Jmi targeted mutation 2, Jeffrey Milbrandt MGI:3057332 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• very low penetrance (3/50) of unilateral proximal ureter dilation/hydronephrosis, however these mice are viable, have normally located gonads, no overt defects in the enteric nervous system, and essentially normal kidneys
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• very low penetrance (1/50) of unilateral proximal ureter dilation/hydronephrosis
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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 |
| N |
• mice exhibit improved survival compared with Rettm1Heno/Rettm2(RET)Jmi mice
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| N |
• gut motility is normal
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• 1 of 51 mice exhibit aganglionosis compared with wild-type mice
• however, 50 of 51 mice exhibit normal enteric nervous system
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• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice
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• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• exhibited aganglionosis only in the colon, and the abnormal morphology of the enteric neuronal plexus with incomplete penetrance
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hirschsprung's disease | DOID:10487 |
OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 |
J:135153 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a slight delay at E11.5 in the migratory behavior of enteric neural crest-derived cells (ENCDC) at the levels where the migrating wave front advances into the hindgut
• at E12.5-E13.5, the delay in hindgut colonization by ENCDCs is greatly enhanced
• in approximately half of the fetuses, ENCDC colonization was not observed in the distal colon even at E15.5
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• the nuclei were found to be abnormally indented, resulting in multilobular nuclei ganglia
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• a slight delay at E11.5 in the migratory behavior of enteric neural crest-derived cells (ENCDC) at the levels where the migrating wave front advances into the hindgut
• at E12.5-E13.5, the delay in hindgut colonization by ENCDCs is greatly enhanced
• in approximately half of the fetuses, ENCDC colonization was not observed in the distal colon even at E15.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 23% of mice die between P5 and P31
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• mice exhibit wet stool weight and water stool content compared with control mice
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• mice exhibit decreased stool frequency compared with control mice
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| N |
• mice exhibit normal kidney development
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| N |
• mice exhibit normal motor innervation
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• in 8 of 21 mice
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• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice
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• colonization of the hindgut with enteric neural crest cells is delayed compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• oligoganglionic gut, puncta of nerve fiber and cell body staining are frequently observed in the interganglionic spaces with incomplete penetrance
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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 11/12/2024 MGI 6.24 |
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