More than 5 kilobase pairs of DNA encompassing exons 10-14 have been deleted. Northern blot analysis of kidney RNA reveals the presence in mutant mice of a shorter than normal mRNA, at levels similar to those of the normal transcript in wild-typie littermates; the cDNA sequence confirms that the mutant mRNA has exon 9 spliced in-frame to exon 15. Western blot analysis of protein extracts from sciatic nerve with antibodies to full-length NDRG1 reveals an intense 43-kDa band in wild-type and a very faint band of 32 kDa in mutant sciatic nerve. (J:172770, J:198695)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count