Phenotypes associated with this allele

• Allele Symbol: Col5a2^tm1Rmz
• Allele Name: targeted mutation 1, Francesco Ramierez
• Allele ID: MGI:2152946
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col5a2^tm1Rmz/Col5a2^tm1Rmz	either: (involves: 129S4/SvJae * 129T2/SvEms) or (involves: 129S4/SvJae * C57BL/6)	MGI:2664356

Genotype
MGI:2664356

hm1

• Allelic Composition: Col5a2^tm1Rmz/Col5a2^tm1Rmz
• Genetic Background: either: (involves: 129S4/SvJae * 129T2/SvEms) or (involves: 129S4/SvJae * C57BL/6)

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

mortality/aging

decreased survivor rate ( J:22301 )

• homozygotes that survive the neonatal and weaning period exhibit an average survival rate of 5% past the weaning age

neonatal lethality, incomplete penetrance ( J:22301 )

• most homozygotes die within 48 hrs after birth

postnatal lethality, incomplete penetrance ( J:22301 )

• a number of homozygotes die between P2 and P21 with respiratory problems

growth/size/body

decreased body size ( J:22301 )

• pre-weaning homozygotes are smaller than wild-type littermates due to an impaired ability to move and compete for nourishment

• caging together only post-weaning homozygotes eventually restores average body size to wild-type levels

decreased body weight ( J:22301 )

• at 3 weeks of age, homozygotes weigh ~50% less than wild-type littermates

respiratory system

respiratory distress ( J:22301 )

• homozygotes exhibit severe respiratory problems caused by spinal defects

behavior/neurological

hunched posture ( J:22301 )

• soon after birth, homozygotes develop a progressive hunching of the back that affects mobility and nourishment

pup cannibalization ( J:22301 )

♀ • mutant pups are readily cannibalized

skeleton

lordokyphosis ( J:22301 )

• all homozygotes display varying degrees of kyphosis and spinal lordosis

• kypholordosis is probably secondary to loss of tensile strength in the ligaments

abnormal skeleton development ( J:22301 )

• intravital double-tetracycline labeling indicates that mutant bone (femur) grows at a slower rate than wild-type bone

vision/eye

abnormal cornea morphology ( J:22301 )

• at 6 weeks of age, mutant corneal fibrils are disorganized and twice as thick as wild-type fibrils (50 nm vs 25 nm in diameter, respectively)

decreased cornea stroma thickness ( J:22301 )

• at 6 weeks of age, the stroma but not epithelium of mutant corneas appears collapsed and thinner than normal

integument

abnormal hypodermis morphology ( J:22301 )

• an unusual localization of large numbers of hair follicles is observed in the hypodermis

• most of these hair follicles exhibit a typical late anagen morphology

thick hypodermis ( J:22301 )

• homozygotes exhibit a 4- to 6-fold increase in the thickness of hypodermis

abnormal cutaneous collagen fibril morphology ( J:22301 )

• at 6 weeks of age, mutant dermal collagen fibrils appear more disorganized, less tightly packed, and a little more variable in size than wild-type fibrils

• several glycoprotein-filled lacunae are also observed

thin dermal layer ( J:22301 )

• homozygotes exhibit a significantly thinned dermal layer

spontaneous skin ulceration ( J:22301 )

• mutant skin exhibits multiple scars and bleeding lacerations

decreased skin tensile strength ( J:22301 )

• mutant skin is extremely fragile skin and can be easily removed without a surgical scalpel

• in a biomechanical test, mutant skin is shown to be more stretchable and fail under less stress than wild-type skin