Phenotypes associated with this allele

• Allele Symbol: Bpnt2^{Gt(RST634)Byg}
• Allele Name: gene trap RST634, BayGenomics
• Allele ID: MGI:3810994
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bpnt2^Gt(RST634)Byg/Bpnt2^Gt(RST634)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3810995
cx2	Bpnt2^Gt(RST634)Byg/Bpnt2^Gt(RST634)Byg Papss2^bm/Papss2^bm	involves: 129P2/OlaHsd * LDJ/Le	MGI:5494467

Genotype
MGI:3810995

hm1

• Allelic Composition: Bpnt2^{Gt(RST634)Byg}/Bpnt2^{Gt(RST634)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Skeletal abnormalities of Bpnt2^{Gt(RST634)Byg}/Bpnt2^{Gt(RST634)Byg} mutant mice

mortality/aging

neonatal lethality, complete penetrance ( J:139706 )

• died within minutes of birth due to severe respiratory distress

respiratory system

atelectasis ( J:139706 )

• abnormal architecture of lung similar to a atelectasis in newborn mice

abnormal respiratory system physiology ( J:139706 )

• alterations in levels of chondrotin sulfate and heparan sulfate in lung tissue

respiratory distress ( J:139706 )

• severe respiratory distress after birth causes death within minutes

limbs/digits/tail

short humerus ( J:139706 )

short radius ( J:139706 )

short ulna ( J:139706 )

short limbs ( J:139706 )

• appendicular bones of the uper limbs and the ilium, femur, tibia, and fibula of the lower limbs wer markedly shorter in intact E18.5 embryos

craniofacial

short snout ( J:139706 )

• a shortening of the snout in intact E18.5 embryos

skeleton

short humerus ( J:139706 )

short radius ( J:139706 )

short ulna ( J:139706 )

disorganized long bone epiphyseal plate ( J:139706 )

• growth plate with reduced longitudinal zones of both epiphyseal chondrocytes and proliferating chondrocytes

short scapula ( J:139706 )

abnormal thoracic cage morphology ( J:139706 )

• malformed rib cage

short sternum ( J:139706 )

• reduced sternal length and diminished rib spacing

short ribs ( J:139706 )

axial skeleton hypoplasia ( J:139706 )

• the length of the axial skeleton was reduced

abnormal cartilage development ( J:139706 )

• deficient sulfation of chondritin in cartilage

growth/size/body

short snout ( J:139706 )

• a shortening of the snout in intact E18.5 embryos

Genotype
MGI:5494467

cx2

• Allelic Composition: Bpnt2^{Gt(RST634)Byg}/Bpnt2^{Gt(RST634)Byg}; Papss2^bm/Papss2^bm
• Genetic Background: involves: 129P2/OlaHsd * LDJ/Le

mortality/aging

neonatal lethality, complete penetrance ( J:194247 )

• presence of homozygous Papss2^bm does not rescue neonatal lethality or skeletal abnormalities

craniofacial

shortened head ( J:194247 )

limbs/digits/tail

short humerus ( J:194247 )

short radius ( J:194247 )

short ulna ( J:194247 )

short limbs ( J:194247 )

skeleton

short humerus ( J:194247 )

short radius ( J:194247 )

short ulna ( J:194247 )

disorganized long bone epiphyseal plate ( J:194247 )

short scapula ( J:194247 )

abnormal thoracic cage morphology ( J:194247 )

short sternum ( J:194247 )

short ribs ( J:194247 )

axial skeleton hypoplasia ( J:194247 )

abnormal cartilage development ( J:194247 )

growth/size/body

shortened head ( J:194247 )