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This kind of mouse bears a point mutation in the dystrophin gene.
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Scurfy mice bear a loss-of-function mutation in the Foxp3 transcription factor (Foxp3sf/+).
The ob/ob mice bear a mutation in the ob gene that causes a deficiency in the hormone leptin and hence obesity.
These mice bear a ∼1 kb genomic deletion in the endogenous murine Cln3 gene that is analogous to the most common ∼1 kb genomic deletion in juvenile NCL patients.
The mdx mice bear a naturally occurring mutation in exon 23 of the dystrophin gene that abrogates expression of the full-length dystrophin protein, causing symptoms of muscular dystrophy [7], [8].
Twitcher mice bear a spontaneous point mutation resulting in a premature stop codon and no residual GALC activity (72).
Nupr1−/− mice bear a homozygous deletion of exon 2 of the Nupr1 gene and were reported previously.
This may explain why the Tak1col2 mice bear a much greater resemblance to mice with defects in BMP but not TGFβ signalling in chondrocytes (Yi et al, 2000; Yoon et al, 2005).
Largemyd mice bear an intragenic deletion in the Large gene [41], and exhibit neuronal migration defects in the brain and eye abnormalities similar to CMDs in humans [44].
Consequently, these mice bear an SLE-like phenotype as early as 3 to 4 months of age.
1. Mouse soleus bears a closer molecular resemblance than other mouse skeletal muscles to several different human skeletal muscles.
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