Phenotypes associated with this allele

• Allele Symbol: Rbl1^tm1.1Fad
• Allele Name: targeted mutation 1.1, Frederick A Dick
• Allele ID: MGI:5614063
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbl1^tm1.1Fad/Rbl1^tm1.1Fad	involves: 129 * FVB/N	MGI:5614113
cx2	Rbl1^tm1.1Fad/Rbl1^tm1.1Fad Rbl2^tm1Tyj/Rbl2^tm1Tyj	involves: 129S2/SvPas * C57BL/6 * FVB/N	MGI:5614114

Genotype
MGI:5614113

hm1

• Allelic Composition: Rbl1^tm1.1Fad/Rbl1^tm1.1Fad
• Genetic Background: involves: 129 * FVB/N

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

cellular

cellular phenotype ( J:217445 )

N • proliferating and serum starved cells exhibit normal withdrawal from the cell cycle

Genotype
MGI:5614114

cx2

• Allelic Composition: Rbl1^tm1.1Fad/Rbl1^tm1.1Fad; Rbl2^tm1Tyj/Rbl2^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

cellular

cellular phenotype ( J:217445 )

N • proliferating and serum starved cells exhibit normal withdrawal from the cell cycle

craniofacial

interparietal bone hypoplasia ( J:217445 )

• small and underdeveloped

small supraoccipital bone ( J:217445 )

• small and underdeveloped

abnormal middle ear ossicle morphology ( J:217445 )

• poorly mineralized

growth/size/body

decreased body size ( J:217445 )

• despite normal weight at E18.5, rare survivors are severely runted

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:217445 )

• poorly mineralized

limbs/digits/tail

short radius ( J:217445 )

• at E18.5

short ulna ( J:217445 )

• at E18.5

short femur ( J:217445 )

• at E18.5

short fibula ( J:217445 )

• at E18.5

short tibia ( J:217445 )

• at E18.5

mortality/aging

neonatal lethality, incomplete penetrance ( J:217445 )

• some mice die shortly after birth

postnatal lethality, complete penetrance ( J:217445 )

• all but one mouse died by 1.5 days after birth

skeleton

interparietal bone hypoplasia ( J:217445 )

• small and underdeveloped

small supraoccipital bone ( J:217445 )

• small and underdeveloped

abnormal middle ear ossicle morphology ( J:217445 )

• poorly mineralized

abnormal long bone epiphyseal ossification zone morphology ( J:217445 )

• hyperplasia of chondrocytes in the resting and proliferating zones

abnormal long bone epiphyseal plate proliferative zone ( J:217445 )

• hyperplasia of chondrocytes in the resting and proliferating zones

decreased long bone epiphyseal plate size ( J:217445 )

• slightly

decreased length of long bones ( J:217445 )

• at E18.5

short radius ( J:217445 )

• at E18.5

short ulna ( J:217445 )

• at E18.5

short femur ( J:217445 )

• at E18.5

short fibula ( J:217445 )

• at E18.5

short tibia ( J:217445 )

• at E18.5

abnormal scapular spine morphology ( J:217445 )

• short at E18.5

abnormal bone mineralization ( J:217445 )

• poorly mineralized inner ear ossicles

• however, mineralization of the long bones is normal