Phenotypes associated with this allele

• Allele Symbol: Col5a1^tm2.1Rjw
• Allele Name: targeted mutation 2.1, Richard J Wenstrup
• Allele ID: MGI:5644153
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col5a1^tm2.1Rjw/Col5a1^tm2.1Rjw	involves: 129 * C57BL/6 * SJL	MGI:5661561
cn2	Col5a1^tm2.1Rjw/Col5a1^tm2.1Rjw Tg(Kera-cre)KC4.3Wwk/0	involves: 129 * C57BL/6 * FVB/N * SJL	MGI:5661552

Genotype
MGI:5661561

hm1

• Allelic Composition: Col5a1^tm2.1Rjw/Col5a1^tm2.1Rjw
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:221469 )

• floxed mice show no differences in collagen V expression, gross morphology or cornea ultrastructure relative to wild-type controls

Genotype
MGI:5661552

cn2

• Allelic Composition: Col5a1^tm2.1Rjw/Col5a1^tm2.1Rjw; Tg(Kera-cre)KC4.3Wwk/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

vision/eye

abnormal cornea stroma morphology ( J:221469 )

• adult mice display abnormal fibril structure and stromal disorganization

• larger and less uniform collagen fibrils are seen throughout the cornea stroma, with disrupted fibril packing

• a significant decrease in fibril density and inter-fibril space is noted in both anterior and posterior regions of the stroma

decreased cornea stroma thickness ( J:221469 )

• adult mice exhibit a 14% decrease in corneal stroma thickness relative to wild-type controls

abnormal cornea anterior stroma morphology ( J:221469 )

• in the anterior stroma, the mean stromal fibril diameter increased to 42.5+/-12.8 nm versus 25.3+/-3.4 nm in control corneas

• the range of anterior stroma fibril diameters is 8-95 nm versus 14-42 nm in control corneas

• a 58% decrease in the number of fibrils per unit area is noted in the anterior stroma

abnormal cornea posterior stroma morphology ( J:221469 )

• in the posterior stroma, the mean stromal fibril diameter increased to 34.7+/-6.7 nm versus 27.5+/-3.3 nm in control corneas

• the range of posterior stroma fibril diameters is 12-61 nm versus 14-39 nm in control corneas

• a 36% decrease in the number of fibrils per unit area is noted in the posterior stroma

abnormal cornea stroma collagen fibril morphology ( J:221469 )

• at P30 and P90, mice exhibit a heterogeneous collagen fibril population containing fibrils with very large diameters

• structurally abnormal fibrils with irregular profiles are commonly observed

• the fibril phenotype shows an anterior-posterior difference, with the anterior stroma containing larger and more heterogeneous fibrils than the posterior stroma

• a significant decrease in fibril density is noted in both anterior and posterior regions of the stroma

cornea opacity ( J:221469 )

• adult mice exhibit conspicuous corneal stromal opacity

• at P60, backscattered light is observed throughout the corneal stroma, with more haze in the anterior stroma

increased corneal light-scattering ( J:221469 )

• mice exhibit a 3.5-fold increase in the average light scattering per micrometer thickness of the corneal stroma relative to wild-type controls

growth/size/body

growth/size/body region phenotype ( J:221469 )

N • mice are viable and fertile with no significant differences in body weight at P10 or P30 relative to wild-type controls