Phenotypes Associated with This Genotype

Genotype
MGI:2654712

• Allelic Composition: Dkc1^tm1Ppp/Dkc1⁺
• Genetic Background: involves: 129S1/Sv

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

hematopoietic system

abnormal definitive hematopoiesis ( J:81054 )

♀ • although most phenotypic analyses were performed on G2 male hemizygotes, authors state that G1-G2 female heterozygotes display features of bone marrow failure at a lower penetrance, consistent with the observation that some human female carriers exhibit features of X-linked dyskeratosis congenita; however, no data are presented in J:81054

abnormal bone marrow cell morphology/development ( J:81054 )

♀

abnormal erythrocyte morphology ( J:81054 )

♀

abnormal hematopoietic system physiology ( J:81054 )

♀

immune system

abnormal immune system cell morphology ( J:81054 )

♀

abnormal immune system organ morphology ( J:81054 )

♀

respiratory system

abnormal lung morphology ( J:81054 )

♀

renal/urinary system

abnormal kidney morphology ( J:81054 )

♀

neoplasm

increased tumor incidence ( J:81054 )

♀

cellular

abnormal cell morphology ( J:81054 )

♀

abnormal cell physiology ( J:81054 )

♀

integument

abnormal skin morphology ( J:81054 )

♀

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dyskeratosis congenita		DOID:2729	OMIM:PS127550	J:81054