Summary | ||||||||
Mutation origin |
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Mutation description |
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Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
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Expression |
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Find Mice (IMSR) |
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Notes |
Abnormalities occur principally at the posterior end of the body and consist of absence of the hindlimbs, a single median hindlimb, or two partly fused hindlimbs, accompanied by abnormalities of the pelvic girdle, kinked or otherwise abnormal tails, atresia ani and underdeveloped intestines, and fusion and other abnormalities of the urogenital system. A small percentage of heterozygotes have twisted tails (J:5150).
Craniofacial anomalies, including micrognathia, microstomia, and cleft palate, also occur in many srn/srn mice, the frequency being greater in those mice more severely affected caudally (J:6999). Homozygous embryos were first identified at 11 days of gestation by hindlimb buds postioned more ventrally than normal. At this stage there is a single median umbilical artery rather than the normal paired arteries (J:5389).
In the presence of heterozygosity for the Danforth's short tail gene (Sd), which also causes caudal malformations, srn/+ heterozygotes express the siren phenotype (J:36966). Studies of recombination between srn and genes linked to Sd (since Sd/+ srn/+ double heterozygotes are often lethal) established that srn is not an allele of, nor even linked to, Sd. The modification of srn dominance by Sd is a physiological interaction (J:12037).
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References |
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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 10/22/2024 MGI 6.24 |
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