Phenotypes associated with this allele

• Allele Symbol: Macf1^tm1Efu
• Allele Name: targeted mutation 1, Elaine Fuchs
• Allele ID: MGI:3828998
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Macf1^tm1Efu/Macf1^tm1Efu	involves: 129	MGI:6383935
cn2	Macf1^tm1Efu/Macf1^tm1Efu Tg(KRT14-cre)1Efu/0	involves: 129	MGI:3829003
cn3	Macf1^tm1Efu/Macf1^tm1Efu Tg(rx3-icre)1Mjam/0	involves: 129	MGI:6383934
cn4	Macf1^tm1Efu/Macf1^tm1Efu Tg(Six3-cre)69Frty/0	involves: 129 * C57BL/6 * DBA/2	MGI:6383933

Genotype
MGI:6383935

cn1

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu
• Genetic Background: involves: 129

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

vision/eye

retina photoreceptor degeneration ( J:240903 )

• mice injected subretinally with an adenovirus-expressing cre recombinase under the control of the rhodopsin kinase promotor (ad-cre) at 3 months of age show upregulation of GFAP in photoreceptors and apoptotic photoreceptors, indicating degeneration

abnormal retina development ( J:240903 )

• inner segments show a loss of basal body anchoring at the connecting cilium in mice injected with ad-cre

thin retina outer nuclear layer ( J:240903 )

• outer nuclear layer thinning is seen in mice injected with ad-cre

abnormal electroretinogram waveform feature ( J:240903 )

• mice injected subretinally with ad-cre at 3 months of age show decreased ERG a- and b-waves under dark-adapted conditions

nervous system

retina photoreceptor degeneration ( J:240903 )

• mice injected subretinally with an adenovirus-expressing cre recombinase under the control of the rhodopsin kinase promotor (ad-cre) at 3 months of age show upregulation of GFAP in photoreceptors and apoptotic photoreceptors, indicating degeneration

Genotype
MGI:3829003

cn2

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129

homeostasis/metabolism

delayed wound healing ( J:143595 )

• areas of hyperproliferating epithelium at wound sites are decreased by more than 30% over 2 to 4 days after injury compared to in similarly treated wild-type mice

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

integument

increased keratinocyte adhesion ( J:143595 )

• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells

decreased keratinocyte migration ( J:143595 )

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells

• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal

cellular

increased keratinocyte adhesion ( J:143595 )

• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells

decreased keratinocyte migration ( J:143595 )

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells

• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal

Genotype
MGI:6383934

cn3

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129

vision/eye

abnormal retina morphology ( J:240903 )

• 6 week old mice show retinal dysplasia predominately affecting the outer retina with disruption of retinal lamination

absent photoreceptor inner segment ( J:240903 )

• inner segments are lost

absent photoreceptor outer segment ( J:240903 )

• outer segments are lost

abnormal electroretinogram waveform feature ( J:240903 )

• mice show decreased ERG a- and b-waves under dark-adapted conditions

• mice show severely decreased response to a 10-Hz flicker test

decreased a-wave amplitude ( J:240903 )

• amplitude of dark adapted a-wave is decreased

decreased b-wave amplitude ( J:240903 )

• amplitudes of dark adapted and light adapted b-wave are decreased

nervous system

enlarged brain ventricles ( J:240903 )

• slightly enlarged ventricles at 3 months

absent photoreceptor inner segment ( J:240903 )

• inner segments are lost

absent photoreceptor outer segment ( J:240903 )

• outer segments are lost

Genotype
MGI:6383933

cn4

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129 * C57BL/6 * DBA/2

vision/eye

abnormal retina morphology ( J:240903 )

• severe retinal dysplasia, predominately affecting the photoreceptor layer

abnormal retina bipolar cell morphology ( J:240903 )

• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21

abnormal retina development ( J:240903 )

• apicobasal polarity of developing photoreceptors is disrupted as indicated by a failure of ciliary rootlets to align along the apical margin of the retina and marker analysis

• basal bodies are displaced throughout the developing neuroblast layer as early as P0

• majority of basal bodies lack a docked ciliary vesicle, indicating inhibited ciliogenesis

• dividing cells are frequently seen ectopically in the mid-neuroblast layer

abnormal retina neuronal layer morphology ( J:240903 )

• separation of the inner nuclear layer and outer nuclear layer is disrupted at P5 and by P10, the outer nuclear layer is split and fragmented

abnormal retina photoreceptor layer morphology ( J:240903 )

• disruption of the outer retina lamination is seen at P5 but not P0

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5

absent photoreceptor inner segment ( J:240903 )

• inner segment is absent at maturity

absent photoreceptor outer segment ( J:240903 )

• outer segment is absent at maturity

abnormal electroretinogram waveform feature ( J:240903 )

• ERG a- and b-waves are absent in both dark- and light-adapted mice at 6 weeks of age, indicating loss of both rod and cone function

• mice are non-responsive to a 10-Hz flicker test

decreased a-wave amplitude ( J:240903 )

• amplitude of dark adapted a-wave is decreased

decreased b-wave amplitude ( J:240903 )

• amplitudes of dark adapted and light adapted b-wave are abolished

absent b-wave ( J:240903 )

• b-waves are absent in both dark- and light-adapted mice

nervous system

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5

abnormal retina bipolar cell morphology ( J:240903 )

• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21

absent photoreceptor inner segment ( J:240903 )

• inner segment is absent at maturity

absent photoreceptor outer segment ( J:240903 )

• outer segment is absent at maturity

cellular

abnormal photoreceptor connecting cilium morphology ( J:240903 )

• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5