Phenotypes for Recql4 Tg(Prrx1-cre)1Cjt MGI:8275713 MGI Mouse

mortality/aging

postnatal lethality, incomplete penetrance ( J:309253 )

• about 1/3 of mice die before weaning age, most likely due to difficulty feeding as a result of limb defects

growth/size/body

postnatal growth retardation ( J:309253 )

limbs/digits/tail

abnormal limb morphology ( J:309253 )

• mice that survive show smaller limbs at 3 weeks of age

adactyly ( J:309253 )

• missing digits or decreased mineralization in the remaining phalanges are commonly seen

abnormal forelimb morphology ( J:309253 )

• P0 pups show severely foreshortened and deformed forelimbs

short forelimb ( J:309253 )

• P0 pups show severely foreshortened forelimbs

abnormal hindlimb morphology ( J:309253 )

• hindlimbs are less affected than forelimbs but are smaller and shorter

decreased femur compact bone thickness ( J:243426 )

• femurs show reduced cortical thickness at 3 months of age

decreased femoral compact bone area ( J:243426 )

• femurs exhibit more than 50% reduction of cortical bone area at 3 months of age

short hindlimb ( J:309253 )

abnormal limb development ( J:309253 )

• embryos start to show limb defects at E12.5 and mice show severe limb developmental defects at birth

skeleton

decreased femur compact bone thickness ( J:243426 )

• femurs show reduced cortical thickness at 3 months of age

decreased femoral compact bone area ( J:243426 )

• femurs exhibit more than 50% reduction of cortical bone area at 3 months of age

abnormal long bone epiphyseal plate morphology ( J:309253 )

• at E18.5, distal femur growth plates show reduced cell density of chondrocytes and increased cell size in the resting zone, proliferating zone, and hypertrophic zone

• at 3 weeks of age, mice show disorganized distal femur growth plates and abnormal chondrocyte morphology showing increased cell size

abnormal long bone epiphyseal plate proliferative zone ( J:309253 )

• E18.5 growth plates show reduced number of BrdU+ cells in the proliferating zone indicating decreased cell proliferation

decreased bone volume ( J:243426 )

• mice exhibit reduced bone volume at 3 months of age

decreased trabecular bone volume ( J:243426 )

• femurs show more than 50% reduction of trabecular bone volume fraction (bone volume/total volume) at 3 months of age

decreased osteoblast cell number ( J:243426 )

• number of osteoblasts per bone perimeter is reduced in femurs at 3 months of age

• osteoblast surface is reduced in femurs at 3 months of age

• however, osteoclast number and function are not significantly changed

decreased bone trabecula number ( J:243426 )

• femurs show more than 50% reduction in trabecular number at 3 months of age

increased bone trabecular spacing ( J:243426 )

• femurs show a 2-fold increase in trabecular separation at 3 months of age

abnormal chondrocyte morphology ( J:309253 )

• growth plate chondrocytes exhibit increased cell size in the resting zone, proliferating zone, and hypertrophic zone

abnormal bone ossification ( J:309253 )

• mice that survive show abnormal ossification in the joint region of the hindlimbs at 3 weeks of age

• however, formation of primary ossification centers of long bones at E13.5 appears normal

abnormal bone mineralization ( J:243426 )

• surface of osteoid and newly formed bone matrix is reduced by more than 50% in femurs at 3 months of age

premature coronal suture closure ( J:309253 )

• skulls show bilateral coronal suture synostoses at birth and synostoses of the coronal sutures are seen in 3-week-old mice

• coronal sutures appear to already be fused and mineralized at E16.5

premature squamoparietal suture closure ( J:309253 )

• synostoses of the squamosal sutures are seen in 3-week-old mice

abnormal chondrocyte physiology ( J:309253 )

• E18.5 growth plate chondrocytes exhibit strong gammaH2AX staining indicating increased/unresolved DNA damage

increased chondrocyte apoptosis ( J:309253 )

• E18.5 growth plates show increased numbers of apoptotic cells

decreased chondrocyte proliferation ( J:309253 )

• E18.5 growth plates show reduced number of BrdU+ cells in the proliferating zone indicating decreased cell proliferation

cellular

increased chondrocyte apoptosis ( J:309253 )

• E18.5 growth plates show increased numbers of apoptotic cells

decreased chondrocyte proliferation ( J:309253 )

• E18.5 growth plates show reduced number of BrdU+ cells in the proliferating zone indicating decreased cell proliferation

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
Baller-Gerold syndrome	DOID:0050654	OMIM:218600	J:309253
Rothmund-Thomson syndrome	DOID:2732	OMIM:268400	J:243426 , J:309253

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/15/2026 MGI 6.29