Phenotypes associated with this allele

• Allele Symbol: Lmo7^tm1Tilg
• Allele Name: targeted mutation 1, Shirley M Tilghman
• Allele ID: MGI:3639949
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmo7^tm1Tilg/Lmo7^tm1Tilg	involves: 129S7/SvEvBrd * C57BL/6	MGI:3640007

Genotype
MGI:3640007

hm1

• Allelic Composition: Lmo7^tm1Tilg/Lmo7^tm1Tilg
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:83810 )

• 33% of homozygotes die during the first or third weeks after birth

growth/size/body

decreased body weight ( J:83810 )

• surviving homozygotes are smaller by ~10% than littermates during the first week after birth; at beginning of second postnatal week, animals are 80% of normal weight

• at 80 days of age, homozygotes are ~20% smaller than littermates

• there are two distinct classes of mutants with class 1 being less severely affected, being smaller throughout development and reaching 75-80% of normal weight; class 2 mutants show 68% mortality in the first 3 weeks of life with survivors being severely runted and only 60% of normal weight

behavior/neurological

decreased thermal nociceptive threshold ( J:83810 )

• mutants show a shorter latency in response a to hot plate stimulus

nervous system

abnormal photoreceptor inner segment morphology ( J:83810 )

• reduction in cell numbers

abnormal photoreceptor outer segment morphology ( J:83810 )

• reduction in cell numbers

muscle

abnormal skeletal muscle fiber morphology ( J:83810 )

• number of nuclei in thigh muscle fibers is increased 2-fold in homozygotes with individual nuclei being elongated at 80 days after birth; phenotype is present in other skeletal muscles as well

vision/eye

abnormal retina pigmentation ( J:83810 )

• punctate white spots are present throughout the fundus

abnormal retina outer nuclear layer morphology ( J:83810 )

• there are dramatically reduced cell numbers in this layer

abnormal retina photoreceptor layer morphology ( J:83810 )

• photoreceptor layer is only one cell layer thick with membranous debris filling the subretinal space

abnormal photoreceptor inner segment morphology ( J:83810 )

• reduction in cell numbers

abnormal photoreceptor outer segment morphology ( J:83810 )

• reduction in cell numbers

pigmentation

abnormal retina pigmentation ( J:83810 )

• punctate white spots are present throughout the fundus