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Fig. 1. Morphological characteristics of mice heterozygous for the Gja1^Jrt mutation. (A,C) External plantar and x-ray images taken at 11 weeks of age show that Gja1^Jrt/+ mice have variable soft tissue fusion of digits 2, 3 and 4 on the forelimb and hindlimb. (B,D) Faxitron analysis shows the digit fusion in Gja1^Jrt/+ mice does not involve the bone. Gja1^Jrt/+ are missing the middle phalange of the last digit on both the forelimb and hindlimb (arrows) and exhibit abnormal bone growth of digit 1 (pollex) on the forelimb (arrowhead). (E) Upper incisors are small and both upper and lower incisors are white in the Gja1^Jrt/+ mice, instead of yellow as in wild-type (+/+) mice at 20 weeks of age. (F) Back-scatter scanning electron microscopy shows the enamel layer on Gja1^Jrt/+ upper incisors is very thin compared with wild-type littermates (+/+), and is nearly absent in places. de, dentine; en, enamel. Scale bar: 1 mm. White boxes indicate the area of higher magnification as seen in the insets.

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