Analysis Tools
hearing/vestibular/ear
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• percentage of mice display lateral canal truncation
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Allele Symbol Allele Name Allele ID |
Bmp4tm4Blh targeted mutation 4, Brigid L Hogan MGI:3797048 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• percentage of mice display lateral canal truncation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Hindlimb fusion of Bmp4tm4Blh/Bmp4tm4Blh Isl1tm1(cre)Sev/Isl1+ mice
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• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
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• marker analysis indicates abnormal anterior peri-cloacal mesenchyme formation resulting in hypoplastic anterior peri-cloacal mesenchyme
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• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained
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• defective fibula formation, with fibula aberrantly located medially or absent
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• defective hindlimb initiation
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• hindlimb fusion similar to sirenomelia
• 59% and 36% of mutants have defects consistent with type III (loss of the fibula) and type I (abnormal medial location of fibula), with the other 5% having type V sirenomelia (loss of the fibula and fusion of the femur)
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• the location of hindlimb bud is closely apposed to one another
• marker analysis suggests that posterior hindlimb buds are fused and that early hindlimb bud grows out normally but the midline tissue is missing
• however, the proximal-distal axis of the hindlimb bud is maintained
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• dysgenesis of pelvic/urogenital organs
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• bladder aplasia
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• hypoplasia of external genitalia
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• defective fibula formation, with fibula aberrantly located medially or absent
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| physical disorder | DOID:0080015 | J:192045 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cochlear ducts show variability in length
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• less severely affected embryos display truncation of lateral canals
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• not discernible in most severely affected embryos at E13.5
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• not discernible in most severely affected embryos at E13.5
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• malformed in most severely affected embryos at E13.5
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• malformed in most severely affected embryos at E13.5
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• intact endolymphatic duct only is evident in dorsal region of inner ear
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• tow thirds of embryos have inner ear defects; more mildly affected embryos show defects in the three ampullae and canals
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• canal defects (in addition to lateral canal truncations) are observed in mildly affected embryos
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• malformed in more severely affected embryos
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• malformed in more severely affected embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hindlimb fusion
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• hindlimb fusion
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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 05/07/2024 MGI 6.23 |
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