Analysis Tools
embryo
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• prostatic bud initiation from the urogenital sinus epithelium is unaffected, but buds fail to elongate
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Allele Symbol Allele Name Allele ID |
Sox9tm2Crm targeted mutation 2, Benoit de Crombrugghe MGI:2429649 |
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| Summary |
16 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• prostatic bud initiation from the urogenital sinus epithelium is unaffected, but buds fail to elongate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5, Sertoli cells are absent
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• at E18.5, Leydig cells are absent
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• by E18.5 testes have not descended caudally
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• gonads develop very few or no sex chords
• XY males exhibit ovarian differentiation
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• 40% of mice undergo sex reversal
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• at E18.5, Sertoli cells are absent
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• at E18.5, Leydig cells are absent
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• by E18.5 testes have not descended caudally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5, Sertoli cells are absent
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• at E18.5, Leydig cells are absent
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• by E18.5 testes have not descended caudally
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• at E18.5, Sertoli cells are absent
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• at E18.5, Leydig cells are absent
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• by E18.5 testes have not descended caudally
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• gonads develop very few or no sex chords
• XY males exhibit ovarian differentiation
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• 1 in 3 male mice undergoes sex reversal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• exacerbated compared with wild-type enhancer cluster 1.45
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• exacerbated compared with wild-type enhancer cluster 1.45
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase of apoptosis in the precortex of the hair bulb
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• different types of hair are impossible to distinguish
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• appear hairless in the caudal part of the body, however further observation shows the presence of small, atrophic hair
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• hair shaft is fragile as hair broke off easily
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• between P6 and P14, show a marked change in follicular epithelium
• by P8, show an increased cellularity in the dermis
• reduction in cell proliferation in the matrix region
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• by P8, show a decreased number of bulb matrix cells
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• increase of apoptosis in the lower part of the outer root sheath
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• bulge (the hair stem cell compartment) of the outer root sheath is absent
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• hair follicles remain after the first hair cycle, however their number is reduced with a marked decrease at P60
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• degeneration of the hair follicle after the first hair cycle
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• increase of apoptosis in the precortex of the hair bulb
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Skeletal image of newborn Sox9tm2Crm/Sox9tm2Crm H2az2Tg(Wnt1-cre)11Rth/0 mice
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• die in the immediate postnatal period from respiratory distress
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• absent thyroid cartilage
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• the body of the hyoid is missing
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• the lesser horns are missing
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• all elements derived from the second and third branchial arches are missing
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• large cleft secondary palate
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• the body of the hyoid is missing
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• the lesser horns are missing
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• absent thyroid cartilage
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• no discernible chondrogenic mesenchyme condensations are seen at E13.5
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• all cartilages and endochondral bones in the prechordal region are missing at E18.5
• endochondrial bone formation derived from cranial neural crest cells is missing, however cranial neural crest cells appear to migrate normally to their target locations
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• large cleft secondary palate
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• large cleft secondary palate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mildly hypoplastic craniofacial skeleton
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• small cleft secondary palate
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• small cleft secondary palate
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• small cleft secondary palate
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5, mice have a significant number of meiotic gonocytes (prophase) located in the seminiferous tubules next to quiescent gonocytes whereas gonocyte meiosis is inhibited in wild-type mice
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• gonads have fewer seminiferous cords and their outline is irregular
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• at E13.5, male testis development is abnormal in a proportion of mice
• however, testes descend normally
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• gonads have fewer seminiferous cords and their outline is irregular
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• at E13.5, male testis development is abnormal in a proportion of mice
• however, testes descend normally
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• at E18.5, mice have a significant number of meiotic gonocytes (prophase) located in the seminiferous tubules next to quiescent gonocytes whereas gonocyte meiosis is inhibited in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• a small proportion of mice die soon after birth
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• a small proportion of mice have campomelic dysplasia (a form of short-limbed dwarfism)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• trunk neural crest derivatives are reduced
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• at E10.5, fewer neurons and glia are present in the dorsal root ganglia caudal to the forelimb level
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• neural crest cells undergo more apoptosis than in wild-type mice prior to or shortly after commencing migration to the periphery
• at E10.5, apoptotic cells are increased in the dorsal region of the neural tube caudal to the forelimb level
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• trunk neural crest derivatives are reduced
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• neural crest cells undergo more apoptosis than in wild-type mice prior to or shortly after commencing migration to the periphery
• at E10.5, apoptotic cells are increased in the dorsal region of the neural tube caudal to the forelimb level
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• bending of bone
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• bending of bone
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• bending of bone
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• bending of bone
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• hypoplasia of pelvic bones
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• bending of bone
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• bending of bone
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• bending of bone
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• bending of bone
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| campomelic dysplasia | DOID:0050463 |
OMIM:114290 |
J:79879 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most die immediately in postnatal period from respiratory distress
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• limb bud development arrested at E13.5
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• animals die from respiratory distress
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• absence of bones in forelimbs and hindlimbs
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• absence of cartilage in forelimbs and hindlimbs
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• limb bud development arrested at E13.5
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• at E11.5 - E12.5, vascular patterning in the limbs is abnormal
• at E11.5 the axial artery is absent from the limbs
• at E12.5 metacarpal vascular centers are absent, instead limb vessels form a single wide center that spans the anterior-posterior axis of the limb
• at E12.5 avascular areas fail to develop
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| campomelic dysplasia | DOID:0050463 |
OMIM:114290 |
J:79879 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 95% of animals die 10 days after birth; only a few survive and are able to mate
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• compression of cervical and thoracic verterbrae
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| campomelic dysplasia | DOID:0050463 |
OMIM:114290 |
J:79879 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryos die around day E16.5; only a few are recovered after birth
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• severe
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| campomelic dysplasia | DOID:0050463 |
OMIM:114290 |
J:79879 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• larger cross-section of basal cochlear lumen in E15.5 embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal cross-section of basal cochlear lumen in E15.5 embryos
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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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