Phenotypes associated with this allele

• Allele Symbol: Clps^tm1Lowe
• Allele Name: targeted mutation 1, Mark E Lowe
• Allele ID: MGI:2660767
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clps^tm1Lowe/Clps^tm1Lowe	involves: 129S6/SvEvTac	MGI:4450987
hm2	Clps^tm1Lowe/Clps^tm1Lowe	involves: 129S6/SvEvTac * Black Swiss	MGI:2660768

Genotype
MGI:4450987

hm1

• Allelic Composition: Clps^tm1Lowe/Clps^tm1Lowe
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

postnatal lethality ( J:159587 )

• mice exhibit decreased postnatal survival compared with wild-type mice

• however, treatment with enterostatin improves survival

Genotype
MGI:2660768

hm2

• Allelic Composition: Clps^tm1Lowe/Clps^tm1Lowe
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

mortality/aging

postnatal lethality ( J:75167 )

• ~60% of homozygotes die before weaning with no obvious malformations in major organs

• most mutant pups die between birth and P11

• vitamin supplementation fails to reverse the survival rate of mutant pups

adipose tissue

decreased percent body fat/body weight ( J:75167 )

• at 3 months of age, homozygotes fed on a high (57%) diet display a significantly reduced body fat as a % of the sum of lean body and fat mass relative to wild-type and heterozygous mutant mice

behavior/neurological

polyphagia ( J:75167 )

• on a high (57%) fat diet, homozygotes consume more food over a 1-week period than wild-type or heterozygous mutant mice

• based on body weight, homozygotes consume almost twice the high fat diet eaten by wild-type and heterozygous mutant littermates

• in contrast, homozygotes display a normal food intake on a low (12%) fat diet

digestive/alimentary system

steatorrhea ( J:75167 )

• on a high (57%) fat diet, homozygotes exhibit fat malabsorption both as newborns and as adults

• in contrast, homozygotes do not display steatorrhea on a low (12%) fat diet

growth/size/body

abnormal facial morphology ( J:75167 )

• after several weeks on a high (57%) fat diet, the upper face becomes devoid of hair and skin excoriations are present

• however, no obvious eye abnormalities are observed

abnormal facial skin morphology ( J:75167 )

• after several weeks on a high (57%) fat diet, skin excoriations are present in the upper face, probably from rubbing the area while grooming

decreased body size ( J:75167 )

• after weaning, homozygotes remain significantly smaller than wild-type and heterozygous mutant mice

decreased body weight ( J:75167 )

• by P20, homozygotes weigh 30% less than wild-type and heterozygous mutant mice

• a reduced body weight is already evident in newborn homozygotes at P1

• although the initial slower rate of weight gain is resolved after weaning, homozygotes maintain a reduced body weight even on a low (12%) fat diet when steatorrhea is not present

• despite their reduced body weight, homozygotes display a normal body temperature regardless of the diet used

slow postnatal weight gain ( J:75167 )

• homozygous mutant suckling pups gain weight at a significantly slower rate than wild-type and heterozygous mutant pups

• surviving and non-surviving mutant pups exhibit identical birth weights; however, non-survivors gain almost no weight over the next 4 days

• after weaning, homozygotes exhibit a rate of weight gain that is identical to that of wild-type and heterozygous mutant mice even when fed a high (57%) fat diet

homeostasis/metabolism

steatorrhea ( J:75167 )

• on a high (57%) fat diet, homozygotes exhibit fat malabsorption both as newborns and as adults

• in contrast, homozygotes do not display steatorrhea on a low (12%) fat diet

increased circulating cholesterol level ( J:75167 )

• unexpectedly, on a low (12%) fat diet, homozygotes display higher serum cholesterol levels than wild-type mice

decreased circulating triglyceride level ( J:75167 )

• homozygotes display lower serum triglyceride levels than wild-type mice on both a low (12%) and a high (57%) fat diet

• the low triglyceride levels on the high fat diet are consistent with the observed steatorrhea

craniofacial

abnormal facial morphology ( J:75167 )

• after several weeks on a high (57%) fat diet, the upper face becomes devoid of hair and skin excoriations are present

• however, no obvious eye abnormalities are observed

abnormal facial skin morphology ( J:75167 )

• after several weeks on a high (57%) fat diet, skin excoriations are present in the upper face, probably from rubbing the area while grooming

integument

abnormal facial skin morphology ( J:75167 )

• after several weeks on a high (57%) fat diet, skin excoriations are present in the upper face, probably from rubbing the area while grooming

abnormal coat appearance ( J:75167 )

• after several weeks on a high (57%) fat diet, tufts of fur are easily plucked from the coat by pulling on the fur; not observed on a 12% fat diet

sparse hair ( J:75167 )

• after several weeks on a high (57%) fat diet, homozygotes display a sparse fur, not observed on a 12% fat diet

greasy coat ( J:75167 )

• after several weeks on a high (57%) fat diet, homozygotes display an oily fur, not observed on a 12% fat diet