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An X-linked recessive mutation producing cleft palate, crooked tail, and polydactyly in mice

J Barra1

  • 1Institut Pasteur, Unité de Génétique des Mammifères, Paris, France.

The Journal of Heredity
|September 1, 1990
PubMed

Insights

A new X-linked recessive mutation, palate-tail-digits abnormality (ptd), causes skeletal defects in mice. This mutation leads to tail malformations, extra hind digits, and cleft palates, resulting in high mortality rates.

Area of Science:

  • Developmental Biology
  • Genetics
  • Mouse Models

Background:

  • A novel X-linked recessive mutation, palate-tail-digits abnormality (ptd), has been identified in mice.
  • This mutation impacts embryonic development and morphogenesis.

Purpose of the Study:

  • To characterize the phenotypic effects of the ptd mutation.
  • To determine the genetic mapping of the ptd mutation.

Main Methods:

  • Phenotypic analysis of affected mice (hemizygous males, homozygous females).
  • Genetic mapping of the mutation relative to known markers (proximal to Tabby).

Main Results:

  • Mice with the ptd mutation display skeletal malformations of the tail and polydactyly (extra digits) of the hind feet.
  • Approximately 60% of affected mice exhibit a cleft palate.
  • A significant level of postnatal mortality is observed in ptd mutants, even in those without cleft palates.

Conclusions:

  • The ptd mutation is a significant genetic factor affecting mouse development.
  • The observed skeletal and craniofacial abnormalities, coupled with high mortality, highlight the critical role of the affected gene in development.
  • Further research into the ptd gene will elucidate fundamental mechanisms of morphogenesis.

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