All Phenotypes Cdk5rap2<an> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Cdk5rap2^an
Hertwig's anemia
MGI:1856646

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdk5rap2^an/Cdk5rap2^an	B6.Cg-Cdk5rap2^an	MGI:4460825
hm2	Cdk5rap2^an/Cdk5rap2^an	involves: C57BL/6 * WB	MGI:4460827
hm3	Cdk5rap2^an/Cdk5rap2^an	Not Specified	MGI:2655166
ht4	Cdk5rap2^{Gt(RRO242)Byg}/Cdk5rap2^an	involves: 129P2/OlaHsd * C57BL/6J	MGI:5911810
cx5	Cdk5rap2^an/Cdk5rap2^an Tyrp1^B-lt/Tyrp1^B-lt	WBB6F1	MGI:5911801

Allelic Composition	Cdk5rap2^an/Cdk5rap2^an
Genetic Background	B6.Cg-Cdk5rap2^an

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2^an mutation (3 available); any Cdk5rap2 mutation (87 available)

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

mortality/aging

premature death ( J:160533 )

• die within one week of age

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

decreased body size ( J:160533 )

• reduced body size at E12.5

• runted

nervous system

increased neuron apoptosis ( J:160533 )

• premature cell cycle exit and increased cell death

abnormal neuron proliferation ( J:160533 )

• cortical neurons divide less

abnormal forebrain development ( J:160533 )

• profound reduction of basal progenitors at later stages in neurogenesis

decreased brain size ( J:160533 )

• reduced brain size at E12.5,

• brain-to-body weight ratio at P0 is decreased

enlarged brain ventricles ( J:160533 )

• enlarged ventricle

small hippocampus ( J:160533 )

• at P0 the hippocampus is smaller than wild-type

abnormal cerebral cortex morphology ( J:160533 )

• disproportionately reduced cortex

loss of cortex neurons ( J:160533 )

• have fewer total neurons and the last-born superficial neurons are particularly reduced

thin cerebral cortex ( J:160533 )

small olfactory bulb ( J:160533 )

abnormal embryonic/fetal subventricular zone morphology ( J:160533 )

• reduced ganglionic eminence

cellular

abnormal mitosis ( J:160533 )

abnormal mitotic spindle morphology ( J:160533 )

• defective mitotic spindle orientation

increased neuron apoptosis ( J:160533 )

• premature cell cycle exit and increased cell death

abnormal neuron proliferation ( J:160533 )

• cortical neurons divide less

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

Allelic Composition	Cdk5rap2^an/Cdk5rap2^an
Genetic Background	involves: C57BL/6 * WB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2^an mutation (3 available); any Cdk5rap2 mutation (87 available)

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

nervous system

abnormal cerebral cortex morphology ( J:160533 )

• cortical hypoplasia visualized by shortening of the forebrain

Allelic Composition	Cdk5rap2^an/Cdk5rap2^an
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2^an mutation (3 available); any Cdk5rap2 mutation (87 available)

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

mortality/aging

postnatal lethality ( J:208 , J:5439 )

• 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

decreased body size ( J:208 , J:5439 )

hematopoietic system

anemia ( J:208 )

• anemic at birth

macrocytic anemia ( J:5439 )

abnormal erythrocyte morphology ( J:5439 )

• mean potential life span of erythrocytes is reduced

abnormal erythropoiesis ( J:5439 )

• erythropoiesis is decreased in the liver

• complete regression of hepatic hemopoiesis occurs at about 4 days after birth compared to 10 days in controls

anisocytosis ( J:5439 )

macrocytosis ( J:5439 )

• seen at birth

decreased leukocyte cell number ( J:5439 )

reticulocytopenia ( J:5439 )

immune system

decreased leukocyte cell number ( J:5439 )

reproductive system

decreased germ cell number ( J:15165 )

• reduced number of germ cells starting at E12-E13

decreased oocyte number ( J:15165 )

increased ovary adenoma incidence ( J:15165 )

• eventually ovaries become tubular adenomas

abnormal spermatogenesis ( J:22618 )

• almost no spermatogenesis is seen in adult testes

reduced fertility ( J:5439 , J:22618 )

• survivors are almost completely sterile (J:22618)

neoplasm

increased ovary adenoma incidence ( J:15165 )

• eventually ovaries become tubular adenomas

vision/eye

eye opacity ( J:22618 )

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

skeleton

kyphosis ( J:22618 )

• older survivors (6-8 months) become kyphotic

integument

premature hair loss ( J:22618 )

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

cellular

decreased germ cell number ( J:15165 )

• reduced number of germ cells starting at E12-E13

decreased oocyte number ( J:15165 )

endocrine/exocrine glands

increased ovary adenoma incidence ( J:15165 )

• eventually ovaries become tubular adenomas

Allelic Composition	Cdk5rap2^{Gt(RRO242)Byg}/Cdk5rap2^an
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2^an mutation (3 available); any Cdk5rap2 mutation (87 available)
Cdk5rap2^{Gt(RRO242)Byg} mutation (0 available); any Cdk5rap2 mutation (87 available)

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

hematopoietic system

macrocytic anemia ( J:160533 )

decreased erythrocyte cell number ( J:160533 )

• compound heterozygotes have approximately one third fewer red blood cells than wild-type or single heterozygous siblings at 6 weeks of age

decreased leukocyte cell number ( J:160533 )

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

immune system

decreased leukocyte cell number ( J:160533 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdk5rap2^an mutation (3 available); any Cdk5rap2 mutation (87 available)
Tyrp1^B-lt mutation (4 available); any Tyrp1 mutation (162 available)

♀	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 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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