Phenotypes associated with this allele

• Allele Symbol: Nabp2^tm1.2Kkha
• Allele Name: targeted mutation 1.2, Kum Kum Khanna
• Allele ID: MGI:5502335
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nabp2^tm1.2Kkha/Nabp2^tm1.2Kkha	involves: BALB/cJ * C57BL/6J	MGI:5502353

Genotype
MGI:5502353

hm1

• Allelic Composition: Nabp2^tm1.2Kkha/Nabp2^tm1.2Kkha
• Genetic Background: involves: BALB/cJ * C57BL/6J

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

Small size and cyanosis in Nabp2^tm1.2Kkha/Nabp2^tm1.2Kkha pups

mortality/aging

neonatal lethality, complete penetrance ( J:195140 )

• mice delivered by caesarian die within 10 to 30 minutes of excision

skeleton

abnormal mandible morphology ( J:195140 )

• recessed

abnormal premaxilla morphology ( J:195140 )

• modest elongation

micrognathia ( J:195140 )

• with a wider angle than control mice

absent fibula ( J:195140 )

decreased length of long bones ( J:195140 )

• in all long bones at E18.5

• more pronounced in hindlimbs

short humerus ( J:195140 )

• at E18.5

short radius ( J:195140 )

• at E18.5

short ulna ( J:195140 )

• at E18.5

short femur ( J:195140 )

• at E18.5

short tibia ( J:195140 )

• at E18.5

short scapula ( J:195140 )

• at E18.5

abnormal thoracic cage morphology ( J:195140 )

• poorly formed ribcage with almost complete lack of ossification

abnormal rib joint morphology ( J:195140 )

• floating ribs

abnormal sternocostal joint morphology ( J:195140 )

• lack of horizontally orientated rib-sternum attachments

abnormal rib morphology ( J:195140 )

• lack of curvature in the anterior ribs

• posterior floating ribs are rudimentary and abnormally shaped

abnormal thoracic cage shape ( J:195140 )

small thoracic cage ( J:195140 )

abnormal bone ossification ( J:195140 )

• almost complete lack of ossification in the ribcage (absent from all but the four most anterior rib pairs)

abnormal bone mineralization ( J:195140 )

• aberrant bone mineralization in hindlimbs

limbs/digits/tail

abnormal autopod morphology ( J:195140 )

• variation of patterning defects between left and right hindlimb autopods

hindlimb oligodactyly ( J:195140 )

• hindlimb specific with variable penetrance

abnormal forelimb morphology ( J:195140 )

• outgrowth defect

short humerus ( J:195140 )

• at E18.5

short radius ( J:195140 )

• at E18.5

short ulna ( J:195140 )

• at E18.5

abnormal hindlimb morphology ( J:195140 )

• outgrowth defect

• aberrant bone mineralization and defects in anterior-posterior axis

short femur ( J:195140 )

• at E18.5

absent fibula ( J:195140 )

short tibia ( J:195140 )

• at E18.5

abnormal limb development ( J:195140 )

• outgrowth defect in the fore and hindlimbs

craniofacial

abnormal craniofacial morphology ( J:195140 )

abnormal mandible morphology ( J:195140 )

• recessed

abnormal premaxilla morphology ( J:195140 )

• modest elongation

micrognathia ( J:195140 )

• with a wider angle than control mice

cleft palate ( J:195140 )

• in 2 of 5 mice

abnormal snout morphology ( J:195140 )

respiratory system

abnormal lung development ( J:195140 )

• distal lung differentiation defects

• however, early patterning is normal

abnormal pulmonary alveolus morphology ( J:195140 )

• reduced alveolar lumen

abnormal type II pneumocyte morphology ( J:195140 )

• increase in immature type II alveolar epithelial cells at P0

increased pulmonary alveolus wall thickness ( J:195140 )

• thickened, hypercellular alveolar walls

primary atelectasis ( J:195140 )

respiratory distress ( J:195140 )

• mice delivered by caesarian fail to established rhythmic breathing taking short, sporadic gasping breaths

growth/size/body

cleft palate ( J:195140 )

• in 2 of 5 mice

abnormal snout morphology ( J:195140 )

decreased birth body size ( J:195140 )

decreased fetal weight ( J:195140 )

• at E18.5

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:195140 )

• poorly formed

cellular

cellular phenotype ( J:195140 )

N • mouse embryonic stem cells exhibit normal response to DNA double-strand breaks induced by ionizing radiation

digestive/alimentary system

cleft palate ( J:195140 )

• in 2 of 5 mice