Genetics
Allele Symbol
Nubp1m1Nisw
Gene Name
nucleotide binding protein 1
Phenotype
abnormal digit morphology; oligodactyly; syndactyly; neonatal lethality, complete penetrance
Strain of Origin
C57BL/6J
Molecular Note
ENU induced two C to A transversions at position 743 and 803 resulting in a Threonine to Lysine and Proline to Glutamine amino acid change, respectively. Protein expression is detected in the distal lung epithelium; however the interaction with Nubp2 is disrupted in vitro.
Husbandry
Suggested Controls
Wild-type from the colony
Breeding Considerations
Heterozygotes are viable and fertile. Homozygotes die shortly after birth due to suffocation.
Breeding Strategy
Wild-type x Heterozygote
Heterozygote x Wild-type