Phenotypes Associated with This Genotype

Genotype
MGI:3849602

• Allelic Composition: Dkc1^tm2Pjma/Y
• Genetic Background: chimera involves: 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

abnormal fertility/fecundity ( J:149894 )

♂ • despite detection of cells carrying the mutant allele in the testes no pups carrying the mutant allele are produced; normal litter sizes suggest that there is no germ line transmission of this allele

cellular

abnormal cell physiology ( J:149894 )

♂ • contribution of mutant ES cells to tissues is lower than coat color would suggest it should be

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	dyskeratosis congenita	DOID:2729	OMIM:PS127550	J:149894