Phenotypes Associated with This Genotype

Genotype
MGI:5911801

• Allelic Composition: Cdk5rap2^an/Cdk5rap2^an; Tyrp1^B-lt/Tyrp1^B-lt
• Genetic Background: WBB6F1

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

hematopoietic system

impaired hematopoiesis ( J:7003 )

• the mild, erythropoietin-resistant, macrocytic anemia that results from defective mitosis in homozygous stem cells can only be resuced by bone marrow transplantation from wild-type donors if the homozygotes are first lethally irradiated

cellular

aneuploidy ( J:7537 )

abnormal mitosis ( J:7537 )

• 5% to 15% of mitotic figures obtained from a variety of homozygous tissues have abnormal mitotic figures

growth/size/body

microcephaly ( J:160533 )

• Background Sensitivity: homozygotes show modest microcephaly on a WBB6F1 background, but more severe on a C57BL/6J congenic background

reproductive system

parturition failure ( J:753 )

♀ • homozygous females fail to deliver pups, often dying as a result, and fail to respond normally to estrogen or relaxin

neoplasm

increased histiocytic sarcoma incidence ( J:102334 )

• on the WB/Re x C57BL/6J F1 hybrid background Hertwig anemia homozygotes have greatly increased incidence of histiocytic sarcomas, with associated myelopoiesis, compared with homozygotes on congenic WB/Re or C57BL/6J backgrounds or non-homozygous mice on the WB/Re x C57BL/6J F1 hybrid background

• average age of tumor presentation begins after 1 year of age with an overall incidence in the F1 population of 63.5%

nervous system

forebrain hypoplasia ( J:160533 )

• Background Sensitivity: shortened forebrain does not extend fully over the superior colliculus of the midbrain, but this is less severe than on the C57BL/6J congenic background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
histiocytic and dendritic cell cancer		DOID:5621		J:160533
microcephaly		DOID:10907		J:160533