Phenotypes associated with this allele

• Allele Symbol: Itgb1^tm5.1Ref
• Allele Name: targeted mutation 5.1, Reinhard Fassler
• Allele ID: MGI:3848527
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Itgb1^tm5.1Ref/Itgb1^tm5.1Ref	involves: 129S1/Sv * 129X1/SvJ	MGI:3848528
cn2	Itgb1^tm1Ref/Itgb1^tm5.1Ref Tg(KRT5-cre)5132Jlj/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J	MGI:3848530

Genotype
MGI:3848528

hm1

• Allelic Composition: Itgb1^tm5.1Ref/Itgb1^tm5.1Ref
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:148885 )

• die around E6 to E6.5

preweaning lethality, complete penetrance ( J:177979 )

• mice die during development (no time point given)

Genotype
MGI:3848530

cn2

• Allelic Composition: Itgb1^tm1Ref/Itgb1^tm5.1Ref; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J

Hair and skin phenotypes of various keratinocyte conditional Itgb1 alleles

reproductive system

reproductive system phenotype ( J:148885 )

N • mice are fertile unlike conditional null mice homozygous for Itgb1^tm1Ref and hemizygous for Tg(KRT1-5-cre)5132Jlj

pigmentation

abnormal dermal pigmentation ( J:148885 )

• dermal fibrosis is accompanied by scattered melanin deposits

integument

decreased keratinocyte proliferation ( J:148885 )

• when cultured on a surface coated with collagen I and fibronectin, keratinocytes from 2.5 month old mice adhere but fail to spread and proliferate

• however, keratinocyte proliferation is similar to wild-type when cells are isolated from 6.5 month old mice

abnormal coat/ hair morphology ( J:177979 )

• mildly affected

abnormal hair growth ( J:177979 )

• at P14, abnormally shaped hair follicles fail to grow as deeply into the subcutis compared to in control mice

progressive hair loss ( J:148885 )

• loss of hair occurs between 6 and 12 months of age

• hair loss is delayed compared to conditional null mice homozygous for Itgb1^tm1Ref and hemizygous for Tg(KRT1-5-cre)5132Jlj

sparse hair ( J:148885 )

• coat is slightly thinner at 2 weeks of age compared to controls

abnormal hair follicle morphology ( J:148885 , J:177979 )

• at P14 about 60% of hair follicles are misshapen and arrested in morphogenesis (J:148885)

• at P14 about 40% of hair follicles reach down to the muscle layer (J:148885)

• at P14 (J:177979)

abnormal hair follicle outer root sheath morphology ( J:148885 )

• at P14 about 40% have severely abnormal and multilayered outer root sheaths

decreased hair follicle number ( J:177979 )

abnormal dermal layer morphology ( J:148885 )

• progressive hair loss is accompanied by development of dermal fibrosis with scattered melanin deposits

blistering ( J:148885 )

• at P14 occasional small microblisters are seen at the dermal-epidermal junction

• however by 6.5 months of age almost no microblisters are seen in the epidermis of the back skin

abnormal dermal pigmentation ( J:148885 )

• dermal fibrosis is accompanied by scattered melanin deposits

cellular

decreased keratinocyte proliferation ( J:148885 )

• when cultured on a surface coated with collagen I and fibronectin, keratinocytes from 2.5 month old mice adhere but fail to spread and proliferate

• however, keratinocyte proliferation is similar to wild-type when cells are isolated from 6.5 month old mice