Phenotypes associated with this allele

• Allele Symbol: Ifrd1^tm1Lah
• Allele Name: targeted mutation 1, Lukas A Huber
• Allele ID: MGI:3043556
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ifrd1^tm1Lah/Ifrd1^tm1Lah	involves: 129P2/OlaHsd * C57BL/6	MGI:3043558
cx2	Ifrd1^tm1Lah/Ifrd1^tm1Lah Ifrd2^tm1.1Lah/Ifrd2^tm1.1Lah	involves: 129 * 129P2/OlaHsd * C57BL/6J	MGI:7657422

Genotype
MGI:3043558

hm1

• Allelic Composition: Ifrd1^tm1Lah/Ifrd1^tm1Lah
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

growth/size/body

decreased body weight ( J:89917 )

• 24 month old homozygous mice had significantly lower body weights compared to wild-type mice

• at 4 months a small (~10%) decrease in body weight is seen in homozygous mutants compared to wild-type mice

muscle

abnormal skeletal muscle morphology ( J:89917 )

• no abnormalities in skeletal muscle morphology are seen in homozygous mice between 3 - 6 months of age

• at 4 months a decrease in the force produced per unit of muscle mass is seen in homozygous mutants compared to wild-type mice

• 24 month old homozygous mice an increased number of central nuclei, smaller fibers with smaller diameters, and a lower total number of fibers in and significant decrease in weight of the tibialis anterior muscle

decreased soleus weight ( J:89917 )

• at 4 months of age, mutant mice exhibit a small (~10%) decrease in the wet weight of the soleus muscle

abnormal muscle regeneration ( J:89917 )

• in 4 month old mice 30 days following muscle crush injury of the soleus muscle the single twitch and tetanus force were significantly lower in homozygous mutants compared to wild-type mice indicating a delay in recovery

• reinnervation is also delayed by about 4 weeks in homozygous mutants compared to wild-type mice

• spontaneous and stimulated differentiation of cultured primary myogenic satellite cells is significantly decreased in cells from homozygous mutants compared to wild-type mice

adipose tissue

decreased abdominal adipose tissue amount ( J:344868 )

♂ • decrease in abdominal fat content and size

♂ • however, mice are not significantly lighter than controls

abnormal white fat cell differentation ( J:344868 )

♂ • cells from inguinal white adipose tissue display reduced differentiation in culture

cellular

abnormal white fat cell differentation ( J:344868 )

♂ • cells from inguinal white adipose tissue display reduced differentiation in culture

limbs/digits/tail

decreased soleus weight ( J:89917 )

• at 4 months of age, mutant mice exhibit a small (~10%) decrease in the wet weight of the soleus muscle

Genotype
MGI:7657422

cx2

• Allelic Composition: Ifrd1^tm1Lah/Ifrd1^tm1Lah; Ifrd2^tm1.1Lah/Ifrd2^tm1.1Lah
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

growth/size/body

increased lean body mass ( J:344868 )

♂ • percentage of lean mass is 92 +/- 3.14% compared to 60 +/- 4.6% in wild-type controls

slow postnatal weight gain ( J:344868 )

• both males and females fail to gain weight, starting during weaning

• weights are similar to controls at birth

• at 10 weeks of age body weights are 30% lower than controls and later this difference increases up to 44.9%

• food intake and activity are identical to controls and no differences are seen in respiratory exchange ratios

decreased susceptibility to weight gain ( J:344868 )

♂ • gain less weight on a high fat diet at 1, 2, and 3 weeks on the diet

♂ • difference in weight gain is detectable after 1 week on a high fat diet even though no significant difference in food intake is seen

adipose tissue

decreased abdominal adipose tissue amount ( J:344868 )

♂ • decreased in content and size

decreased total body fat amount ( J:344868 )

♂ • at 6 months of age, percentage of fat is 6 +/- 3% of total body mass compared to 37.7 +/- 4% in wild-type controls

abnormal white fat cell differentation ( J:344868 )

♂ • cells from inguinal white adipose tissue display reduced differentiation in culture

digestive/alimentary system

abnormal feces composition ( J:344868 )

♂ • increase in the amount of free fatty acids in the feces when on a high fat diet

♂ • energy content of dried feces is significantly increased

cellular

abnormal white fat cell differentation ( J:344868 )

♂ • cells from inguinal white adipose tissue display reduced differentiation in culture