The nonsense R168X mutation is one of the most common MeCP2 mutations associated with Rett syndrome (RTT), and produces a truncated mutant protein. These mice carry the R168X knock-in mutation of the Mecp2. An in-frame UGA stop codon is introduced with the adenine at position 502 substituted with thymine in exon 4.
While gene transcript is detected by RT-PCR in total RNA from brain tissue of mutant male mice, no full length or truncated protein is detected in nuclear extracts from brain tissue of hemizygous males. Sequencing confirmed the presence of the mutation.
Hemizygous males are smaller than wildtype littermates and exhibit tremors, hind limb clasping, hypoactivity, irregular breathing, and apnea as early as 27 days of age. Impaired motor performance and decreased anxiety-like behavior of hemizygous males are observed by 6 weeks of age. 
Heterozygous females start to develop tremor and hind limb clasping as early as 36 days. By 9 months of age, female heterozygotes exhibit impaired motor control. Mutant mice have poor nest building abilities. Hemizygous males have a median lifespan of 57 days of age, and lifespan range of 23 to 150 days.

Mecp2R168X knock-in mice develop impaired motor function, and behavioral abnormalities such as reduced anxiety. This strain may be useful for in studies of Rett syndrome.

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Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.

B6.129-Mecp2<tm1.1(R168X)Hupp>/J - Embryo