Phenotypes associated with this allele

• Allele Symbol: Frem2^my-F11
• Allele Name: my-F11
• Allele ID: MGI:3603530
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Frem2^my-F11/Frem2^my-F11	either: (involves: C3HeB/FeJ * C57BL/6J) or (involves: C3HeB/FeJ * C57BL/6J * M. m. castaneus)	MGI:3603819

Genotype
MGI:3603819

hm1

• Allelic Composition: Frem2^my-F11/Frem2^my-F11
• Genetic Background: either: (involves: C3HeB/FeJ * C57BL/6J) or (involves: C3HeB/FeJ * C57BL/6J * M. m. castaneus)

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

Blistering and hemorrhages in Frem2^my-F11/Frem2^my-F11 embryos and mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:101189 )

• most homozygotes die at or shortly after birth

• Background Sensitivity: on a mixed background that includes M. m. castaneus a few homozygotes survive to adulthood

cardiovascular system

atrial septal defect ( J:101189 )

• failure of atrial septation

abnormal heart valve morphology ( J:101189 )

• defect in ventricular valves

hemorrhage ( J:101189 )

• hemorrhages first appear at E12.5 in the choroid plexus, at E13 blisters and hemorrhages form on the surface of the head often covering the eyes, at E14 blisters and hemorrhages are found in the distal limbs mostly in the hindlimbs, and at E15.5 hemorrhages form in the palate

• most hemorrhages resolve before birth but some persist and limbs in adults display hemorrhages

• most malformations appear to be the result of localized tissue necrosis associated with hemorrhages

nervous system

open neural tube ( J:101189 )

• the neural tube fails to close in the midbrain

• Background Sensitivity: decreased incidence of open neural tube is seen on a mixed background that includes M. m. castaneus

vision/eye

microphthalmia ( J:101189 )

• the eyes are often absent or present only as a rudiment

anophthalmia ( J:101189 )

• the eyes are often absent or present only as a rudiment

craniofacial

absent outer ear ( J:101189 )

• the ears are often absent or present only as a rudiment

small ears ( J:101189 )

• the ears are often absent or present only as a rudiment

hearing/vestibular/ear

absent outer ear ( J:101189 )

• the ears are often absent or present only as a rudiment

small ears ( J:101189 )

• the ears are often absent or present only as a rudiment

limbs/digits/tail

abnormal limb morphology ( J:101189 )

• truncation of the limb is sometimes seen; however, skeletal patterning is normal suggesting this is the result of hemorrhages

abnormal digit morphology ( J:101189 )

• a range of malformations is seen including abnormal digit flexure

oligodactyly ( J:101189 )

• loss of digits is sometimes seen

syndactyly ( J:101189 )

• soft tissue syndactyly is sometimes seen

growth/size/body

decreased birth weight ( J:101189 )

• many neonates have significantly reduced body weight

abnormal head morphology ( J:101189 )

absent outer ear ( J:101189 )

• the ears are often absent or present only as a rudiment

small ears ( J:101189 )

• the ears are often absent or present only as a rudiment

respiratory system

abnormal lung morphology ( J:101189 )

• abnormal lung septation with fusion of the lobes is often seen; however, the internal structure of the lung appears normal

pigmentation

abnormal coat/hair pigmentation ( J:101189 )

• fur on the surface of the head and trunk is occasionally discolored

variable body spotting ( J:101189 )

• small regions of fur frequently lack color

embryo

open neural tube ( J:101189 )

• the neural tube fails to close in the midbrain

• Background Sensitivity: decreased incidence of open neural tube is seen on a mixed background that includes M. m. castaneus

integument

abnormal coat/hair pigmentation ( J:101189 )

• fur on the surface of the head and trunk is occasionally discolored

variable body spotting ( J:101189 )

• small regions of fur frequently lack color

sparse hair ( J:101189 )

• fur on the surface of the head and trunk is occasionally sparse