Phenotypes associated with this allele

• Allele Symbol: Neb^tm1(cre)Chen
• Allele Name: targeted mutation 1, Ju Chen
• Allele ID: MGI:3664092
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Neb^tm1(cre)Chen/Neb^tm1(cre)Chen	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:3712818

Genotype
MGI:3712818

hm1

• Allelic Composition: Neb^tm1(cre)Chen/Neb^tm1(cre)Chen
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

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

Neb^tm1(cre)Chen/Neb^tm1(cre)Chen exhibit decreased postnatal weight and die at postnatal day 8-11

mortality/aging

postnatal lethality, complete penetrance ( J:111470 )

• mice die around 8-11 days after birth, with no or little detectable milk in their stomachs

growth/size/body

decreased body weight ( J:111470 )

• body weight barely increases after birth, with pups displaying ~25% of the body weight shown by wild-type littermates

muscle

muscle phenotype ( J:111470 )

N • mice show no obvious outward differences from wild-type in skeletal or cardiac muscle, with no fibrosis observed at postnatal day 1 (P1)

abnormal muscle fiber morphology ( J:111470 )

• in diaphragm at P1, misalignment of myofibrils is observed

• at P9, there appears to be accumulation of mitochondria within myofibers

abnormal sarcomere morphology ( J:111470 )

• in tibialis anterior (TA) muscle of 1-day old mice, and at P6, myofibrillar misaligment of sarcomere is observed

• at P9, severe disruption of myofibrillar structure is seen in the diaphragm muscle including lack of well-defined A- and I-bands; some fibers exhibit complete lack of organization with Z lines that appear to be dissolving

abnormal A band morphology ( J:111470 )

• lack of well-defined A-bands in the diaphragm muscle at P9

abnormal I band morphology ( J:111470 )

• lack of well-defined I-bands in the diaphragm muscle at P9

abnormal Z line morphology ( J:111470 )

• fragmented Z lines are apparent in TA muscle; similar results are found in P6 mice

• moderate thickening of Z lines in diaphragm musle is observed at P1

• at P9, Z lines in diaphragm have a variety of morphologies, with some appearing extremely thick, rounded and electron-dense resembling nemaline rod bodies, while others were punctate and looked fragmented; in some fibers, Z lines appear to be dissolving

behavior/neurological

abnormal suckling behavior ( J:111470 )

• mice seem to be unable to suckle effectively, probably due to muscle weakness

adipose tissue

decreased total body fat amount ( J:111470 )

• homozygous mice exhibit minimal subcutaneous body fat