Phenotypes associated with this allele

• Allele Symbol: Foxp2^tm1Bux
• Allele Name: targeted mutation 1, Joseph D Buxbaum
• Allele ID: MGI:3584266
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxp2^tm1Bux/Foxp2^tm1Bux	involves: 129X1/SvJ * C57BL/6	MGI:4889123
hm2	Foxp2^tm1Bux/Foxp2^tm1Bux	involves: C57BL/6	MGI:3584506
ht3	Foxp2^tm1Bux/Foxp2^+	involves: C57BL/6	MGI:3584507
cx4	Foxp1^tm1Eem/Foxp1^tm1Eem Foxp2^tm1Bux/Foxp2^tm1Bux	involves: 129X1/SvJ * C57BL/6	MGI:4889124
cx5	Foxp1^tm1Eem/Foxp1^+ Foxp2^tm1Bux/Foxp2^tm1Bux	involves: 129X1/SvJ * C57BL/6	MGI:4889125

Genotype
MGI:4889123

hm1

• Allelic Composition: Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

respiratory system

impaired lung alveolus development ( J:121421 )

• homozygotes show postnatal lung alveolarization defects, at least partly due to increased expression of Pdpn (T1alpha), a marker of type I alveolar epithelial cells

overexpanded pulmonary alveolus ( J:121421 )

• at P8 and P20, mutant lungs exhibit severely dilated distal airspaces, as shown by mean linear intercept analysis

• however, no significant changes in alveolar epithelial cell morphology are noted at P8

abnormal respiratory conducting tube morphology ( J:121421 )

• at P8 and P20, mutant lungs display severely dilated airways

Genotype
MGI:3584506

hm2

• Allelic Composition: Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: C57BL/6

Histological analysis of brains of Foxp2^tm1Bux and wild type mice

mortality/aging

postnatal lethality, complete penetrance ( J:99864 )

• homozygotes typically die by 21 days of age; however, maternal care of homozygotes and feeding appear normal

behavior/neurological

abnormal reflex ( J:99864 )

• mean righting during a fall is reduced

impaired righting response ( J:99864 )

• righting response is delayed

decreased locomotor activity ( J:99864 )

• decreased spontaneous activity

positive geotaxis ( J:99864 )

decreased vocalization ( J:99864 )

• at 6 days of age the incidence of vocalization over time is reduced and at 10 days of age a profound decrease in ultrasonic vocalizations and the incidence of clicks is observed; however the duration, peak frequency, and bandwidth of the vocalizations are normal

nervous system

abnormal radial glial cell morphology ( J:99864 )

• gaps are seen in the glial network while in some areas glial fibers appear clumped

abnormal cerebellum external granule cell layer morphology ( J:99864 )

• a 3 - 4 cell thick external granule cell layer is seen at 15 - 17 days of age; however increased apoptosis is not seen in this layer

abnormal cerebellar Purkinje cell layer ( J:99864 )

• Purkinje cells frequently fail to align in a continuous row, often forming a layer that is several cells thick with ectopic ells in the granule cell layer

abnormal Purkinje cell dendrite morphology ( J:99864 )

• the dendritic arbors are less elaborate and often aligned at oblique angles

thin cerebellar molecular layer ( J:99864 )

• the molecular layer is about half the thickness of wild-type

growth/size/body

delayed ear emergence ( J:99864 )

postnatal growth retardation ( J:99864 )

hearing/vestibular/ear

delayed ear emergence ( J:99864 )

vision/eye

delayed eyelid opening ( J:99864 )

craniofacial

delayed ear emergence ( J:99864 )

cellular

abnormal radial glial cell morphology ( J:99864 )

• gaps are seen in the glial network while in some areas glial fibers appear clumped

Genotype
MGI:3584507

ht3

• Allelic Composition: Foxp2^tm1Bux/Foxp2⁺
• Genetic Background: involves: C57BL/6

Histological analysis of brains of Foxp2^tm1Bux and wild type mice

behavior/neurological

decreased vocalization ( J:99864 )

• at 6 days of age the incidence of vocalization over time is reduced and at 10 days of age a profound decrease in ultrasonic vocalizations is observed; however the duration, peak frequency, and bandwidth of the vocalizations are normal

nervous system

abnormal radial glial cell morphology ( J:99864 )

• radial glial fibers appear less well aligned and thinner

abnormal cerebellum external granule cell layer morphology ( J:99864 )

• a 1 cell thick external granule cell layer is seen at 15 - 17 days of age; however adult heterozygotes lack an external granule cell layer similar to wild-type mice

growth/size/body

postnatal growth retardation ( J:99864 )

cellular

abnormal radial glial cell morphology ( J:99864 )

• radial glial fibers appear less well aligned and thinner

Genotype
MGI:4889124

cx4

• Allelic Composition: Foxp1^tm1Eem/Foxp1^tm1Eem; Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

embryonic lethality, complete penetrance ( J:121421 )

• double homozygotes die prior to E11.5

growth/size/body

decreased embryo size ( J:121421 )

• double homozygous mutant embryos are severely runted

embryo

decreased embryo size ( J:121421 )

• double homozygous mutant embryos are severely runted

Genotype
MGI:4889125

cx5

• Allelic Composition: Foxp1^tm1Eem/Foxp1⁺; Foxp2^tm1Bux/Foxp2^tm1Bux
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:121421 )

• no live mutants are observed at P0-P14, although at least some survive gestation

respiratory system

abnormal lung development ( J:121421 )

• severe defects in lung airway development are observed at E14.5, E16.5 and E18.5

• >40% reduction in cell proliferation in both the lung epithelia and mesenchyme is observed, without any significant changes in apoptosis

• however, proximal-distal epithelial patterning of the lung airways is normal at E18.5

decreased mesenchymal cell proliferation involved in lung development ( J:121421 )

• >40% reduction of cell proliferation in lung mesenchyme, without any significant changes in apoptosis

abnormal branching involved in lung morphogenesis ( J:121421 )

• branching morphogenesis is reduced as shown by the dilated nature of developing airways

small lung ( J:121421 )

• overall lung size is reduced at both E14.5 and E18.5

decreased lung weight ( J:121421 )

• lung-to-body weight ratios are significantly reduced at both E17.5 and P0

dilated respiratory conducting tube ( J:121421 )

• distal airspace luminal area is significantly increased at both E14.5 (~3-fold) and E18.5 (~2-fold)

digestive/alimentary system

abnormal esophagus development ( J:121421 )

• both smooth and skeletal muscle differentiation is disrupted in mutant esophagi

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

• by E18.5, mutants display severely dilated esophagi with a very thin muscular layer

• however, no differences in apoptosis or cell proliferation are observed in mutant esophagi at E14.5

abnormal esophageal smooth muscle morphology ( J:121421 )

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

dilated esophagus ( J:121421 )

• by E18.5, mutants display severely dilated esophagi

muscle

abnormal esophageal smooth muscle morphology ( J:121421 )

• at E14.5, the smooth muscle surrounding the mutant esophagus is thinner than normal

cellular

decreased mesenchymal cell proliferation involved in lung development ( J:121421 )

• >40% reduction of cell proliferation in lung mesenchyme, without any significant changes in apoptosis