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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rpl5Skax23-Jus
skeletal/axial 23, Monica J Justice
MGI:3046775
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rpl5Skax23-Jus/Rpl5Skax23-Jus 129S6.B6-Rpl5Skax23-Jus MGI:7367114
ht2
Rpl5Skax23-Jus/Rpl5+ 129S6.B6-Rpl5Skax23-Jus MGI:7367115
ht3
Rpl5Skax23-Jus/Rpl5+ involves: 129S/SvEv * C57BL/6J MGI:3513999


Genotype
MGI:7367114
hm1
Allelic
Composition
Rpl5Skax23-Jus/Rpl5Skax23-Jus
Genetic
Background
129S6.B6-Rpl5Skax23-Jus
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl5Skax23-Jus mutation (0 available); any Rpl5 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice are identified




Genotype
MGI:7367115
ht2
Allelic
Composition
Rpl5Skax23-Jus/Rpl5+
Genetic
Background
129S6.B6-Rpl5Skax23-Jus
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl5Skax23-Jus mutation (0 available); any Rpl5 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• associated with severe pancytopenia
• fewer than expected mice are born

growth/size/body
• in some mice at E12.5
• at E14.5 but less prominent than at E12.5

hematopoietic system
• at birth
• however, white blood cell and platelet counts were normal in some mice and adult mice exhibit no anemia or hematopoietic defects
• reduced in fetal livers at E14.5
• in one mouse that died during the postnatal period
• severe

cardiovascular system
• in some mice

liver/biliary system
• at E12.5 and E14.5 with fewer Ter119+ cells
• however, adult mice exhibit normal liver cellularity

embryo
• in some mice at E12.5

integument
• in some mice at E12.5 but less prominent at E14.5

limbs/digits/tail
• in newborn mice
• at birth with no evidence of endochondral ossification in the lower caudal vertebrae

skeleton
• in newborn mice
• in newborn mice

craniofacial
N
• newborn mice exhibit normal craniofacial morphology
• in newborn mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Diamond-Blackfan anemia 6 DOID:0111879 OMIM:612561
J:330162




Genotype
MGI:3513999
ht3
Allelic
Composition
Rpl5Skax23-Jus/Rpl5+
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl5Skax23-Jus mutation (0 available); any Rpl5 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• described as a loop tail; low penetrance with 3 of 19 at N1 exhibiting, after an outcross to 129S/SvEv





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory