Phenotypes associated with this allele

• Allele Symbol: Ncoa3^tm1Rsd
• Allele Name: targeted mutation 1, Michael G Rosenfeld
• Allele ID: MGI:1931861
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncoa3^tm1Rsd/Ncoa3^tm1Rsd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3511828

Genotype
MGI:3511828

hm1

• Allelic Composition: Ncoa3^tm1Rsd/Ncoa3^tm1Rsd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

growth/size/body

lowered ear position ( J:66454 )

• ~10% of homozygotes show a random unilateral drop of the ear (facial asymmetry)

decreased embryo size ( J:66454 )

• homozygotes are viable but display a growth defect as early as E13.5

decreased body size ( J:66454 )

• postnatally, all homozygotes are uniformly much smaller than the age- and sex-matched littermates, whether male or female

• the growth impairment continues through weaning, sexual maturation and well into adulthood

decreased body weight ( J:66454 )

• homozygotes display a 30-50% reduction in body weight relative to wild-type from E15.5 onward

embryo

decreased embryo size ( J:66454 )

• homozygotes are viable but display a growth defect as early as E13.5

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:66454 )

• both male and female homozygotes show a significant decrease (~30-50%) in serum insulin-like growth factor 1 (IGF1) levels from P25 to P180; a smaller difference in IGF1 levels is noted with increasing age

• also, homozygotes show a 2- to 3-fold reduction in liver IGF1 mRNA levels; no alterations in IGF1 transcripts are noted in ovary or spleen

hearing/vestibular/ear

lowered ear position ( J:66454 )

• ~10% of homozygotes show a random unilateral drop of the ear (facial asymmetry)

cellular

abnormal cell physiology ( J:66454 )

• in serum-free conditions, mutant MEFs display significantly impaired responses to retinoic acid and IFN-gamma

• in the presence of IGF1, mutant MEFs show a minimal response to retinoic acid; the response to IFN-gamma is 50% of that of wild-type

decreased cell proliferation ( J:66454 )

• in serum-free conditions, both mutant MEFs and hepatocytes exhibit reduced cell proliferation in response to growth hormone and IGF1

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:66454 )

N • homozygotes exhibit normal pituitary development with normal morphology and cellular proliferation

N • all hormone-encoding genes are expressed at wild-type levels

craniofacial

lowered ear position ( J:66454 )

• ~10% of homozygotes show a random unilateral drop of the ear (facial asymmetry)