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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdk5rap2an
Hertwig's anemia
MGI:1856646
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdk5rap2an/Cdk5rap2an B6.Cg-Cdk5rap2an MGI:4460825
hm2
Cdk5rap2an/Cdk5rap2an involves: C57BL/6 * WB MGI:4460827
hm3
Cdk5rap2an/Cdk5rap2an Not Specified MGI:2655166
ht4
Cdk5rap2Gt(RRO242)Byg/Cdk5rap2an involves: 129P2/OlaHsd * C57BL/6J MGI:5911810
cx5
Cdk5rap2an/Cdk5rap2an
Tyrp1B-lt/Tyrp1B-lt
WBB6F1 MGI:5911801


Genotype
MGI:4460825
hm1
Allelic
Composition
Cdk5rap2an/Cdk5rap2an
Genetic
Background
B6.Cg-Cdk5rap2an
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2an mutation (3 available); any Cdk5rap2 mutation (62 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within one week of age

growth/size/body
• Background Sensitivity: homozygotes show modest microcephaly on a WBB6F1 background, but more severe on a C57BL/6J congenic background
• reduced body size at E12.5
• runted

nervous system
• premature cell cycle exit and increased cell death
• cortical neurons divide less
• profound reduction of basal progenitors at later stages in neurogenesis
• reduced brain size at E12.5,
• brain-to-body weight ratio at P0 is decreased
• enlarged ventricle
• at P0 the hippocampus is smaller than wild-type
• disproportionately reduced cortex
• have fewer total neurons and the last-born superficial neurons are particularly reduced

cellular
• defective mitotic spindle orientation
• premature cell cycle exit and increased cell death
• cortical neurons divide less

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
microcephaly DOID:10907 J:160533




Genotype
MGI:4460827
hm2
Allelic
Composition
Cdk5rap2an/Cdk5rap2an
Genetic
Background
involves: C57BL/6 * WB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2an mutation (3 available); any Cdk5rap2 mutation (62 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cortical hypoplasia visualized by shortening of the forebrain




Genotype
MGI:2655166
hm3
Allelic
Composition
Cdk5rap2an/Cdk5rap2an
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2an mutation (3 available); any Cdk5rap2 mutation (62 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• reduced number of germ cells starting at E12-E13

endocrine/exocrine glands
• eventually ovaries become tubular adenomas

mortality/aging
• animals die a few days after birth (J:208)
• most die within a few days or weeks of birth, however a few reach adulthood (J:5439)

growth/size/body

hematopoietic system
• anemic at birth
• mean potential life span of erythrocytes is reduced
• erythropoiesis is decreased in the liver
• complete regression of hepatic hemopoiesis occurs at about 4 days after birth compared to 10 days in controls
• seen at birth

immune system

reproductive system
• reduced number of germ cells starting at E12-E13
• eventually ovaries become tubular adenomas
• almost no spermatogenesis is seen in adult testes
• survivors are almost completely sterile (J:22618)

neoplasm
• eventually ovaries become tubular adenomas

vision/eye
• older survivors (beyond 6-8 months) frequently develop eye opacities

skeleton
• older survivors (6-8 months) become kyphotic

integument
• older survivors (6-8 months) lose their hair completely




Genotype
MGI:5911810
ht4
Allelic
Composition
Cdk5rap2Gt(RRO242)Byg/Cdk5rap2an
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2an mutation (3 available); any Cdk5rap2 mutation (62 available)
Cdk5rap2Gt(RRO242)Byg mutation (0 available); any Cdk5rap2 mutation (62 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• compound heterozygotes have approximately one third fewer red blood cells than wild-type or single heterozygous siblings at 6 weeks of age
• compound heterozgyotes have decreased white blood cells compared with wild-type or single heterozygous siblings at 6 weeks of age

immune system
• compound heterozgyotes have decreased white blood cells compared with wild-type or single heterozygous siblings at 6 weeks of age




Genotype
MGI:5911801
cx5
Allelic
Composition
Cdk5rap2an/Cdk5rap2an
Tyrp1B-lt/Tyrp1B-lt
Genetic
Background
WBB6F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2an mutation (3 available); any Cdk5rap2 mutation (62 available)
Tyrp1B-lt mutation (4 available); any Tyrp1 mutation (110 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• 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
• 5% to 15% of mitotic figures obtained from a variety of homozygous tissues have abnormal mitotic figures

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

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

neoplasm
• 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
• Background Sensitivity: shortened forebrain does not extend fully over the superior colliculus of the midbrain, but this is less severe than on the B57BL/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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory