Phenotypes associated with this allele

• Allele Symbol: Rpsa^tm1Ells
• Allele Name: targeted mutation 1, Steven Ellis
• Allele ID: MGI:3803603
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rpsa^tm1Ells/Rpsa^tm1Ells	involves: 129S6/SvEvTac * C57BL/6	MGI:3804636
ht2	Rpsa^tm1Ells/Rpsa^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3804635

Genotype
MGI:3804636

hm1

• Allelic Composition: Rpsa^tm1Ells/Rpsa^tm1Ells
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:138267 )

• embryos do not develop past E3.5

Genotype
MGI:3804635

ht2

• Allelic Composition: Rpsa^tm1Ells/Rpsa⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

growth/size/body

fetal growth retardation ( J:138267 )

• mice exhibit prenatal growth retardation (weight is lower than wild-type littermates at E14.5); differences normalize postnatally

craniofacial

abnormal craniofacial development ( J:138267 )

• some heterogeneous defects (skull defects, anophthalmia) are observed on mixed 129/B6 background (in about a third of the F2 generation mice), but are no longer observed when animals are backcrossed 4 or more generations onto a C57BL/6 background

endocrine/exocrine glands

abnormal pancreatic beta cell morphology ( J:138267 )

• cells have slightly decreased insulin content

• however, mutants display normal glucose tolerance, insulin sensitivity and insulin secretion

hematopoietic system

decreased mean corpuscular hemoglobin concentration ( J:138267 )

• MCH is significantly lower after treatment with Fluorouracil (a myelosuppressor) compared to wild-type animals

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia		DOID:1339	OMIM:PS105650	J:138267