Phenotypes associated with this allele

• Allele Symbol: Ppib^{Gt(RST139)Byg}
• Allele Name: gene trap RST139, BayGenomics
• Allele ID: MGI:4125284
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppib^Gt(RST139)Byg/Ppib^Gt(RST139)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:5698101

Genotype
MGI:5698101

hm1

• Allelic Composition: Ppib^{Gt(RST139)Byg}/Ppib^{Gt(RST139)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

growth/size/body

decreased body weight ( J:226318 )

• surviving mutant mice weigh about 25% less than wild-type and heterozygous littermates from 3 to 24 weeks of age

postnatal growth retardation ( J:226318 )

• in surviving homozygous offspring of F5 matings, growth deficiency is apparent soon after weaning age

craniofacial

abnormal neurocranium morphology ( J:226318 )

• mutant mice show abnormal shape of calvaria

limbs/digits/tail

abnormal femur morphology ( J:226318 )

• femora of 2-month male mutant mice display altered cortical and trabecular structure on CT analysis

decreased femur compact bone thickness ( J:226318 )

• femoral cortical bone is thinner

decreased femoral compact bone area ( J:226318 )

• decreased cortical area in femora

short femur ( J:226318 )

• at 8 weeks of age, mutant femoral lengths are reduced 7% versus wild-type mice and heterozygotes (p<0.00004)

increased internal diameter of femur ( J:226318 )

• a modestly enlarged marrow space is seen in mutant femora

short tibia ( J:226318 )

• at 8 weeks of age, mutant tibial lengths are reduced 10% versus wild-type mice and heterozygotes (p<0.02)

• mutant mice do not have rhizomelia; the ratio of femoral to tibial length is comparable to wild-type (0.8860.020 vs 0.8610.035, p=0.07).

short limbs ( J:226318 )

• mutant mice show shortened limbs

mortality/aging

postnatal lethality, incomplete penetrance ( J:226318 )

• 30 and 50% lethality of homozygous pups from F4 and F5 matings is seen, likely due to respiratory insufficiency from abnormal rib cage structure

skeleton

abnormal neurocranium morphology ( J:226318 )

• mutant mice show abnormal shape of calvaria

abnormal femur morphology ( J:226318 )

• femora of 2-month male mutant mice display altered cortical and trabecular structure on CT analysis

decreased femur compact bone thickness ( J:226318 )

• femoral cortical bone is thinner

decreased femoral compact bone area ( J:226318 )

• decreased cortical area in femora

short femur ( J:226318 )

• at 8 weeks of age, mutant femoral lengths are reduced 7% versus wild-type mice and heterozygotes (p<0.00004)

increased internal diameter of femur ( J:226318 )

• a modestly enlarged marrow space is seen in mutant femora

short tibia ( J:226318 )

• at 8 weeks of age, mutant tibial lengths are reduced 10% versus wild-type mice and heterozygotes (p<0.02)

• mutant mice do not have rhizomelia; the ratio of femoral to tibial length is comparable to wild-type (0.8860.020 vs 0.8610.035, p=0.07).

abnormal thoracic cage morphology ( J:226318 )

• mutant mice show a deformed and flared rib cage which is more severe in pups that die after birth

• at 2 months of age, the rib cage of both heterozygous and homozygous mice has a narrow apex and drooping ribs at the base, providing limited space under the ribs for abdominal contents, which puff out the abdomen

kyphosis ( J:226318 )

• homozygous mice have kyphosis

decreased bone mineral density of vertebrae ( J:226318 )

• mutant mice have decreased areal BMD of vertebrae (p=0.02)

decreased areal bone mineral density ( J:226318 )

• mutant mice have decreased areal BMD of femora (p=0.001) and vertebrae (p=0.02)

decreased bone mineral density of femur ( J:226318 )

• mutant mice have decreased areal BMD of femora (p=0.001)

decreased trabecular bone volume ( J:226318 )

• trabecular bone volume is half of wild-type

decreased bone trabecula number ( J:226318 )

• reduction of femoral trabecular number

decreased trabecular bone thickness ( J:226318 )

• reduction of femoral trabecular thickness

osteoporosis ( J:226318 )

• surviving adult mutant mice are osteoporotic

decreased bone mineralization ( J:226318 )

• mutant mice show decreased mineralization of calvaria

decreased femur stiffness ( J:226318 )

• mutant femora have reduced stiffness in mechanical tests, requiring 48% less total energy to fracture than wild-type controls

• femoral stiffness was reduced 37% in mutant mice (p<0.01)

decreased bone strength ( J:226318 )

• femoral cortical bending moment of inertia, as measured by microCT, is only modestly reduced (11%, p=0.14) suggesting there may be significant changes in bone material properties at levels unaccounted for by changes in cortical geometr

decreased femur maximal load ( J:226318 )

• mutant femora have reduced ultimate load in mechanical tests

decreased femur yield load ( J:226318 )

• mutant femora have reduced yield load in mechanical tests

fragile skeleton ( J:226318 )

• femoral post-yield displacement and plastic energy are reduced 77% and 89% respectively

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 9		DOID:0110349	OMIM:259440	J:226318