All Phenotypes Rpl27a<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rpl27a^Sfa/Rpl27a⁺	C57BL/6J-Rpl27a^Sfa	MGI:5140353
cx2	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53⁺	B6.Cg-Rpl27a^Sfa Trp53^tm1Tyj	MGI:5140357
cx3	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J	MGI:5140356
cx4	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6J	MGI:5140354
cx5	In(11Trp53;11Wnt3)8Brd/+ Rpl27a^Sfa/Rpl27a⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5140360
cx6	Mdm2^tm1Bay/Mdm2⁺ Rpl27a^Sfa/Rpl27a⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5140361
cx7	Mdm4^tm1Glo/Mdm4⁺ Rpl27a^Sfa/Rpl27a⁺	involves: C57BL/6J	MGI:5140362
cx8	Rpl27a^Sfa/Rpl27a⁺ Tg(Dct-lacZ)#Ove/0	involves: C57BL/6J * FVB/N	MGI:5140358

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

mortality/aging

increased mortality induced by gamma-irradiation ( J:174216 )

• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation

postnatal lethality, incomplete penetrance ( J:174216 )

• about 20% of affected mice die in early postnatal development

behavior/neurological

ataxia ( J:174216 )

• variable penetrance

• cerebellar ataxia with an unsteady gait and consistent falling

impaired coordination ( J:174216 )

growth/size/body

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

decreased body weight ( J:174216 )

• variable penetrance

postnatal growth retardation ( J:174216 )

• seriously affected mice are unable to undertake the rapid growth spurt that normally occurs 19 - 30 days after birth

pigmentation

hyperpigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail, feet, ears and genital areas

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

hematopoietic system

increased hematopoietic stem cell proliferation ( J:174216 )

• significant increase in proliferation

• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs

abnormal hematopoietic system morphology/development ( J:174216 )

• thin, watery blood in severely affected mice

small thymus ( J:174216 )

anemia ( J:174216 )

• variable penetrance

• bone marrow sections show hypocellularity indicative of aplastic anemia

decreased bone marrow cell number ( J:174216 )

• bone marrow sections show hypocellularity indicative of aplastic anemia

decreased hematopoietic cell number ( J:174216 )

decreased erythrocyte cell number ( J:174216 )

• 46% of wild-type numbers in affected mice

thrombocytopenia ( J:174216 )

• 30% of wild-type numbers in affected mice

decreased leukocyte cell number ( J:174216 )

• 14% of wild-type numbers in affected mice

decreased hematopoietic stem cell number ( J:174216 )

• about 40% of wild-type numbers in severely affected mice

pancytopenia ( J:174216 )

• in severely affected mice

small spleen ( J:174216 )

abnormal bone marrow cell physiology ( J:174216 )

• significant increase in bone marrow cell apoptosis in some mice

nervous system

abnormal cerebellum external granule cell layer morphology ( J:174216 )

• reduction in the number of proliferating cells and increase in apoptosis at P3

thin external granule cell layer ( J:174216 )

• small EGL at P2

abnormal cerebellar layer morphology ( J:174216 )

• severely disrupted layers at 12 -14 weeks

abnormal Purkinje cell morphology ( J:174216 )

• Purkinje neurons are disorganized in the cerebellum at 12 -14 weeks of age

ectopic Purkinje cell ( J:174216 )

• found ectopically located throughout the cerebellum at 12 -14 weeks of age

abnormal cerebellar granule layer morphology ( J:174216 )

• pronounced reduction in cell numbers at 12 - 14 weeks of age

decreased cerebellar granule cell number ( J:174216 )

small cerebellum ( J:174216 )

integument

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

limbs/digits/tail

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the tail

immune system

small thymus ( J:174216 )

decreased leukocyte cell number ( J:174216 )

• 14% of wild-type numbers in affected mice

small spleen ( J:174216 )

craniofacial

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

hearing/vestibular/ear

increased ear pigmentation ( J:174216 )

• fully penetrant hyperpigmentation of the ears

cellular

increased hematopoietic stem cell proliferation ( J:174216 )

• significant increase in proliferation

• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs

homeostasis/metabolism

increased mortality induced by gamma-irradiation ( J:174216 )

• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation

endocrine/exocrine glands

small thymus ( J:174216 )

Allelic Composition	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	B6.Cg-Rpl27a^Sfa Trp53^tm1Tyj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27a^Sfa mutation (0 available); any Rpl27a mutation (49 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (249 available)

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

behavior/neurological

behavior/neurological phenotype ( J:174216 )

N	• motor coordination is similar to Trp53 heterozygous controls

pigmentation

increased foot pad pigmentation ( J:174216 )

hematopoietic system

hematopoietic system phenotype ( J:174216 )

N	• no bone marrow deficiencies are detected

nervous system

nervous system phenotype ( J:174216 )

N	• no cerebellar deficiencies are detected

integument

increased foot pad pigmentation ( J:174216 )

limbs/digits/tail

increased foot pad pigmentation ( J:174216 )

Allelic Composition	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

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

mortality/aging

increased tumor-free survival time ( J:174216 )

• prolonged survival compared to mice heterozygous for the Trp53 allele alone

neoplasm

increased metastatic potential ( J:174216 )

• compared to mice heterozygous for the Trp53 allele alone

abnormal tumor incidence ( J:174216 )

• increase in tumor type multiplicity compared to mice heterozygous for the Trp53 allele alone

decreased lymphoma incidence ( J:174216 )

• compared to mice heterozygous for the Trp53 allele alone

increased tumor latency ( J:174216 )

• tumors appear at about 13 months of age compared to about 9 months of age in mice heterozygous for the Trp53 allele alone

Allelic Composition	Rpl27a^Sfa/Rpl27a⁺ Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129S2/SvPas * C57BL/6J

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

pigmentation

pigmentation phenotype ( J:174216 )

N	• foot pad hyperpigmentation is not seen unlike in mice wild-type for Trp53

Allelic Composition	In(11Trp53;11Wnt3)8Brd/+ Rpl27a^Sfa/Rpl27a⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
In(11Trp53;11Wnt3)8Brd mutation (1 available); any In(11Trp53;11Wnt3)8Brd mutation (4 available)
Rpl27a^Sfa mutation (0 available); any Rpl27a mutation (49 available)

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

normal phenotype

no abnormal phenotype detected ( J:174216 )

• mice do not display ataxia or foot pad hyperpigmentation

Allelic Composition	Mdm2^tm1Bay/Mdm2⁺ Rpl27a^Sfa/Rpl27a⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdm2^tm1Bay mutation (1 available); any Mdm2 mutation (53 available)
Rpl27a^Sfa mutation (0 available); any Rpl27a mutation (49 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:174216 )

• no pups are born

Allelic Composition	Mdm4^tm1Glo/Mdm4⁺ Rpl27a^Sfa/Rpl27a⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdm4^tm1Glo mutation (0 available); any Mdm4 mutation (191 available)
Rpl27a^Sfa mutation (0 available); any Rpl27a mutation (49 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:174216 )

• no pups are born

Allelic Composition	Rpl27a^Sfa/Rpl27a⁺ Tg(Dct-lacZ)#Ove/0
Genetic Background	involves: C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27a^Sfa mutation (0 available); any Rpl27a mutation (49 available)
Tg(Dct-lacZ)#Ove mutation (0 available)

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

pigmentation

abnormal epidermal melanocyte morphology ( J:174216 )

• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules in the foot pads and tail

hyperpigmentation ( J:174216 )

• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• hyperpigmentation of the tail

integument

abnormal epidermal melanocyte morphology ( J:174216 )

• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules in the foot pads and tail

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• hyperpigmentation of the tail

limbs/digits/tail

increased foot pad pigmentation ( J:174216 )

increased tail pigmentation ( J:174216 )

• hyperpigmentation of the tail

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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