Analysis Tools
mortality/aging
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• die between E3.5 and E8.5
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Allele Symbol Allele Name Allele ID |
Sall4tm1Brd targeted mutation 1, Allan Bradley MGI:3698290 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die between E3.5 and E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Head, kidney, and anogenital tract defects in Sall4tm1Brd/Sall4+ mice
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• a large number of heterozygous pups do not survive to weaning (16-55% depending on the type of cross and backcross generation)
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• middle ear effusion and squamous metaplasia of epithelium
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• progressive hearing loss
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• hearing loss may be in part conductive
• as, tympanic membrane, ossicles, cochlea, and vestibular system appear normal
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• 67% exhibit middle ear inflammation compared to 22% of wild-type
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• anogenital tract defects include imperforate anus
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• anogenital tract defects include anovaginal fistula formation
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• anogenital tract defects include persistent common cloaca
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• 9% exhibit defects of the lower anogenital tract, ranging from imperforate anus, anovaginal fistula formation, and persistent common cloaca
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• occasionally display shortening of the cranial bones
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• occasionally display lateral deviation of the nasal bones
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• occasionally observe the absence of the triquetrum, one of the small carpal bones
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• 67% exhibit middle ear inflammation compared to 22% of wild-type
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• occasionally observe the absence of the triquetrum, one of the small carpal bones
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• lower anogenital tract defects in 9% of heterozygotes include the formation of Hirschsprung's disease due to the absence of enteric neurons in the distal colon
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• 4% of fetuses between E14.5 and E18.5 exhibit exencephaly
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• anogenital tract defects include persistent common cloaca
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• 25% of heterozygotes between E15.5 and P4 have renal hypoplasia
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• 35% of heterozygotes between E15.5 and P4 have unilateral renal agenesis
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• anogenital tract defects include anovaginal fistula formation
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• anogenital tract defects include persistent common cloaca
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• 9% exhibit defects of the lower anogenital tract, ranging from imperforate anus, anovaginal fistula formation, and persistent common cloaca
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• occasionally display shortening of the cranial bones
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• occasionally display lateral deviation of the nasal bones
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• 50% show an absent or weak Preyer reflex by 12 weeks of age, with a mean age of onset of 58 days
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• occasionally display lateral deviation of the nasal bones
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• occasionally display lateral deviation of the nasal bones
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Duane-radial ray syndrome | DOID:0060747 |
OMIM:607323 |
J:117866 | |
| otitis media | DOID:10754 | J:117866 | ||
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 04/23/2024 MGI 6.23 |
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