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New mutation causing jaundice in mice
Abstract:
A new mutant causing jaundice in mice is reported. Allelism tests indicate that it is not allelic with known hemolytic anemia mutants in mice [hemolytic anemia (sphha), jaundiced (ja), normoblastic anemia (nb), and spherocytosis (sph and sph2Be)]. The jaundiced condition appears in young mice at about 24 hours postpartum and is due to a major increase in unconjugated bilirubin in serum compared to normal controls. Adult mutant mice are not jaundiced and bilirubin levels do not differ from normal mice. Adult male mutants have reduced testes size and no viable sperm. Female mutants are fertile but overall maternal performance is reduced as indicated by increased mortality and reduced growth rate of pups. Genetic tests indicate that a single autosomal recessive gene is responsible for the condition. We propose that the mutant be designated hyper-unconjugated bilirubinemia, with the gene symbol hub.
Insights
A novel mouse mutant exhibits jaundice due to elevated unconjugated bilirubin shortly after birth. This genetic condition, hyper-unconjugated bilirubinemia (hub), also affects adult male fertility and maternal performance.
Area of Science:
- Genetics
- Animal Models
- Biochemistry
Background:
- Jaundice in newborns can result from various genetic and physiological factors.
- Understanding the genetic basis of bilirubin metabolism is crucial for diagnosing and treating related disorders.
- Existing mouse models for hemolytic anemia do not fully explain all forms of neonatal jaundice.
Purpose of the Study:
- To characterize a newly identified mouse mutant exhibiting neonatal jaundice.
- To determine the genetic basis and allelic relationships of this mutant.
- To investigate the physiological consequences of the mutation in adult mice.
Main Methods:
- Phenotypic analysis of mutant mice from birth to adulthood.
- Allelism tests with known hemolytic anemia and jaundice mutants.
- Serum bilirubin level measurements.
- Reproductive performance assessment in adult male and female mutants.
- Genetic mapping to identify the responsible gene.
Main Results:
- A new autosomal recessive mutant causes jaundice in mice within 24 hours postpartum due to increased unconjugated bilirubin.
- The mutation is not allelic with previously identified hemolytic anemia mutants (sphha, ja, nb, sph, sph2Be).
- Adult male mutants display reduced testes size and infertility, while females show reduced maternal performance.
- The gene responsible for this condition is proposed to be named hyper-unconjugated bilirubinemia (hub).
Conclusions:
- The novel 'hub' mutation in mice provides a new model for studying unconjugated hyperbilirubinemia.
- This model can aid in understanding the genetic regulation of bilirubin metabolism and its impact on reproduction.
- Further research into the 'hub' gene may reveal insights into human disorders of bilirubin processing.