Phenotypes associated with this allele

• Allele Symbol: Rps12^em1.1Nbakr
• Allele Name: endonuclease-mediated mutation 1.1, Nicholas Baker
• Allele ID: MGI:7521935
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rps12^em1.1Nbakr/Rps12^em1.1Nbakr	involves: C57BL/6J * FVB/N	MGI:7549077
ht2	Rps12^em1.1Nbakr/Rps12^+	involves: C57BL/6J * FVB/N	MGI:7549078

Genotype
MGI:7549077

hm1

• Allelic Composition: Rps12^em1.1Nbakr/Rps12^em1.1Nbakr
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

embryonic lethality, complete penetrance ( J:338970 )

• no mice are observed at E13.5

Genotype
MGI:7549078

ht2

• Allelic Composition: Rps12^em1.1Nbakr/Rps12⁺
• Genetic Background: involves: C57BL/6J * FVB/N

mortality/aging

premature death ( J:338970 )

pregnancy-related premature death ( J:338970 )

♀

postnatal lethality, incomplete penetrance ( J:338970 )

hematopoietic system

abnormal hematopoietic stem cell proliferation ( J:338970 )

• reduced self-renewal capacity in serial replating

abnormal erythropoiesis ( J:338970 )

• with defective transition between RII and RIII stage cells in the bone marrow worsening with age

• however, erythropoiesis in the embryo and spleen is normal

decreased bone marrow cell number ( J:338970 )

• in young mice

decreased erythroid progenitor cell number ( J:338970 )

• in the bone marrow

abnormal erythroblast morphology ( J:338970 )

• older mice exhibit increased in basophilic erythroblasts and late basophilic and polychromatophilic erythroblasts in the bone marrow and spleen compared with wild-type mice

decreased erythroblast number ( J:338970 )

• older mice exhibit reduced orthochromatic erythroblasts in the bone marrow and spleen compared with wild-type mice

decreased erythrocyte cell number ( J:338970 )

• in young mice

increased mean corpuscular volume ( J:338970 )

decreased leukocyte cell number ( J:338970 )

• in young mice

decreased hematopoietic stem cell number ( J:338970 )

• long-term and short-term in young mice

pancytopenia ( J:338970 )

• chronic

decreased spleen weight ( J:338970 )

• in young and older mice

growth/size/body

decreased embryo size ( J:338970 )

decreased embryo weight ( J:338970 )

decreased body weight ( J:338970 )

integument

increased foot pad pigmentation ( J:338970 )

nervous system

hydrocephaly ( J:338970 )

limbs/digits/tail

increased foot pad pigmentation ( J:338970 )

kinked tail ( J:338970 )

embryo

decreased embryo size ( J:338970 )

decreased embryo weight ( J:338970 )

cellular

abnormal hematopoietic stem cell proliferation ( J:338970 )

• reduced self-renewal capacity in serial replating

immune system

decreased leukocyte cell number ( J:338970 )

• in young mice

decreased spleen weight ( J:338970 )

• in young and older mice

pigmentation

increased foot pad pigmentation ( J:338970 )