The hind limbs of these mutants show spasms that may be mild or intense; the former result in movement that appears to be 'hesitant', the latter bring the leg close to the body, extend it backwards, or to the side. These spasms affect usually one or the other leg, can last 2 sec or longer, and afterwards the mice move around easily. Lifting the mice by their tail frequently brings the hind limbs close to their body; the withdrawal reflex is impaired or absent, i.e. gently pulling a hind limb does not evoke the normal attempt to withdraw it. The phenotype becomes visible at wean (average onset 4 weeks +/- 0.56 of age, n=30) and both, male or female mice have been affected. The overt phenotype as well as the general mapping results suggested that nmf355 might represent an allele of Clcn1; complementation tests confirmed this, i.e. heterozygote matings with Clcn1adr-mto2J (Jax # 001265) resulted in 3 mutants in a total of 11 progeny, and demonstrated that nmf355 indeed represents an allele of Clcn1. Standard pathology performed on two mutants (33 or 74 days of age) showed no abnormalities. Additional pathology is in progress. The colony is maintained through ovarian transplants.

These mice carry an UNU-induced mutation at the Clcn1 locus and exhibit abnormal body movements and spasms. 

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