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The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene

Published online by Cambridge University Press:  14 April 2009

John Anthony Crolla ,
Sarah Katrine Lakeman  and
Mary J. Seller
John Anthony Crolla*
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, United Medical & Dental Schools of Guy's & St Thomas' Hospitals, Floor 8, Guy's Tower, Guy's Hospital, London SE1 9RT, UK
Sarah Katrine Lakeman
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, United Medical & Dental Schools of Guy's & St Thomas' Hospitals, Floor 8, Guy's Tower, Guy's Hospital, London SE1 9RT, UK
Mary J. Seller
Affiliation:
Paediatric Research Unit, Prince Philip Research Laboratories, United Medical & Dental Schools of Guy's & St Thomas' Hospitals, Floor 8, Guy's Tower, Guy's Hospital, London SE1 9RT, UK
*
*Wessex Regional Cytogenetics Unit, General Hospital, Salisbury, Wiltshire, SP2 7SX, U.K., Corresponding author.

Summary

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The mouse mutant curly tail is thought to be inherited as an autosomal recessive (ct/ct) with incomplete penetrance so that approximately 60% of ct/ct individuals exhibit the curly tail (CT) phenotype. By outcrossing ct/ct with mouse stock carrying specific heterozygous combinations of Robertsonian (Rb) chromosomes, trisomy 16 (Ts16) and Ts19 mouse fetuses (and their chromosomally balanced littermates) were derived which were heterozygous for the ct gene. All of the Ts16 (ct/Rb;Rb) fetuses, studied between days 14–19 gestation had tail malformations, 86% of which were tail flexion defects (TFD) apparently very similar to the curly tail phenotype. Neither Ts19 nor any of the chromosomally balanced (ct/Rb) littermates from both experimental crosses showed any type of tail or other spinal malformation. At the 27–29 somite stage of development, Ts16 (ct/Rb;Rb) fetuses did not show any significant delay in the closure of the posterior neuropore (PNP) compared with their littermate controls, suggesting that the tail malformation observed in Ts16 (ct/Rb;Rb) occur as a result of mechanisms which differ significantly from those thought to be responsible to causing the curly tail malformation.

Type
Research Article
Information
Genetics Research , Volume 55 , Issue 1 , February 1990 , pp. 27 - 32
Copyright
Copyright © Cambridge University Press 1990

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