Phenotypes associated with this allele

• Allele Symbol: Mrtfa^tm1Eno
• Allele Name: targeted mutation 1, Eric N Olson
• Allele ID: MGI:3662669
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mrtfa^tm1Eno/Mrtfa^tm1Eno	involves: 129S/SvEv * C57BL/6	MGI:3713273
cn2	Mrtfa^tm1Eno/Mrtfa^tm1Eno Mrtfb^tm2.1Eno/Mrtfb^tm2.1Eno Tg(GFAP-cre)25Mes/0	involves: 129 * 129S/SvEv * C57BL/6 * FVB/N	MGI:4818692
cx3	Mamstr^tm1.2Eno/Mamstr^tm1.2Eno Mrtfa^tm1Eno/Mrtfa^tm1Eno	involves: 129 * C57BL/6	MGI:5313413

Genotype
MGI:3713273

hm1

• Allelic Composition: Mrtfa^tm1Eno/Mrtfa^tm1Eno
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

endocrine/exocrine glands

abnormal involution of the mammary gland ( J:111412 )

♀ • premature involution due to milk stasis

♀ • light increase in proliferation during involution, resulting in post-involution mammary gland structure that is not significantly different from controls

abnormal mammary gland growth during lactation ( J:111412 )

♀ • starting at day 4 of lactation, alveolar density is reduced and at day 12 alveoli are larger, less organized, and separated by adipocytes

♀ • however, mammary development during embryogenesis and pregnancy are normal

♀ • reduced numbers of myoepithelial cells are seen beginning at lactation day 4 and these cells are nearly absent at lactation day 12

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

abnormal mammary gland myoepithelium morphology ( J:111412 )

♀ • reduced numbers of myoepithelial cells are seen beginning at lactation day 4 and these cells are nearly absent at lactation day 12

pale mammary gland ( J:111412 )

♀ • mammary glands in lactating females at lactation day 12 are pale

abnormal lactation ( J:111412 )

♀ • pups raised by homozygous females show growth retardation by P4 and lethality by P20 despite normal maternal nurturing behavior

♀ • mammary glands in lactating females at lactation day 12 contain excess milk and are pale

galactostasis ( J:111412 )

♀ • milk is trapped in the lumens of mammary glands, alveoli are dilated, and alveolar walls are thinner

abnormal mammary gland myoepithelium physiology ( J:111412 )

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

increased mammary gland apoptosis ( J:111412 )

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

integument

abnormal involution of the mammary gland ( J:111412 )

♀ • premature involution due to milk stasis

♀ • light increase in proliferation during involution, resulting in post-involution mammary gland structure that is not significantly different from controls

abnormal mammary gland growth during lactation ( J:111412 )

♀ • starting at day 4 of lactation, alveolar density is reduced and at day 12 alveoli are larger, less organized, and separated by adipocytes

♀ • however, mammary development during embryogenesis and pregnancy are normal

♀ • reduced numbers of myoepithelial cells are seen beginning at lactation day 4 and these cells are nearly absent at lactation day 12

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

abnormal mammary gland myoepithelium morphology ( J:111412 )

♀ • reduced numbers of myoepithelial cells are seen beginning at lactation day 4 and these cells are nearly absent at lactation day 12

pale mammary gland ( J:111412 )

♀ • mammary glands in lactating females at lactation day 12 are pale

abnormal lactation ( J:111412 )

♀ • pups raised by homozygous females show growth retardation by P4 and lethality by P20 despite normal maternal nurturing behavior

♀ • mammary glands in lactating females at lactation day 12 contain excess milk and are pale

galactostasis ( J:111412 )

♀ • milk is trapped in the lumens of mammary glands, alveoli are dilated, and alveolar walls are thinner

abnormal mammary gland myoepithelium physiology ( J:111412 )

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

increased mammary gland apoptosis ( J:111412 )

♀ • massive apoptosis of myoepithelial cells is detected at lactation day 10

behavior/neurological

galactostasis ( J:111412 )

♀ • milk is trapped in the lumens of mammary glands, alveoli are dilated, and alveolar walls are thinner

Genotype
MGI:4818692

cn2

• Allelic Composition: Mrtfa^tm1Eno/Mrtfa^tm1Eno; Mrtfb^tm2.1Eno/Mrtfb^tm2.1Eno; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129 * 129S/SvEv * C57BL/6 * FVB/N

mortality/aging

postnatal lethality, complete penetrance ( J:161853 )

• mice die between P16 and P21

nervous system

increased neuron apoptosis ( J:161853 )

• in the striatum

abnormal neuron differentiation ( J:161853 )

• neurons exhibit defective neurite outgrowth compared with wild-type neurons

abnormal neuronal migration ( J:161853 )

• neurons fail to migrate along the rostral migratory stream unlike in wild-type mice

absent corpus callosum ( J:161853 )

absent anterior commissure ( J:161853 )

decreased striatum size ( J:161853 )

• mice exhibit a smaller striatum than wild-type mice

abnormal hippocampus morphology ( J:161853 )

• the hippocampus is compressed unlike in wild-type mice

abnormal dentate gyrus morphology ( J:161853 )

abnormal hippocampus pyramidal cell layer ( J:161853 )

• poorly defined

abnormal hippocampus neuron morphology ( J:161853 )

• hippocampal neuronal projections are decreased compared to in wild-type mice

abnormal olfactory bulb morphology ( J:161853 )

• olfactory bulbs contain fewer neurons than in wild-type mice

abnormal rostral migratory stream morphology ( J:161853 )

• neurons fail to migrate along the rostral migratory stream unlike in wild-type mice

abnormal postnatal subventricular zone morphology ( J:161853 )

• mice exhibit an expansion of the subventricular zone compared with wild-type mice

• however, expansion is not do to increased cell proliferation

cellular

increased neuron apoptosis ( J:161853 )

• in the striatum

abnormal neuron differentiation ( J:161853 )

• neurons exhibit defective neurite outgrowth compared with wild-type neurons

impaired fibroblast cell migration ( J:161853 )

• mouse embryonic fibroblasts fail to migrate to the wound site in an in vitro scratch test unlike wild-type cells

abnormal neuronal migration ( J:161853 )

• neurons fail to migrate along the rostral migratory stream unlike in wild-type mice

growth/size/body

decreased body weight ( J:161853 )

• at P14

Genotype
MGI:5313413

cx3

• Allelic Composition: Mamstr^tm1.2Eno/Mamstr^tm1.2Eno; Mrtfa^tm1Eno/Mrtfa^tm1Eno
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

perinatal lethality, incomplete penetrance ( J:179880 )

• about 40% die perinatally

muscle

decreased skeletal muscle weight ( J:179880 )

• in mice that survive past P1

muscular atrophy ( J:179880 )

• dramatic muscle wasting at 44 weeks of age

abnormal muscle physiology ( J:179880 )

• failure of satellite cell differentiation

abnormal skeletal muscle satellite cell proliferation ( J:179880 )

• hyperproliferative in culture

impaired skeletal muscle regeneration ( J:179880 )

• complete absence of myofiber regeneration at 7 days post cardiotoxin induced muscle injury

cellular

abnormal skeletal muscle satellite cell proliferation ( J:179880 )

• hyperproliferative in culture

growth/size/body

decreased body weight ( J:179880 )

• in mice that survive past P1

cachexia ( J:179880 )

• dramatic muscle wasting at 44 weeks of age