All Phenotypes Htra2<mnd2> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Htra2^mnd2/Htra2^mnd2	B6.Cg-Htra2^mnd2	MGI:3032952
hm2	Htra2^mnd2/Htra2^mnd2	involves: C3H/He * C57BL/6J	MGI:2683414
hm3	Htra2^mnd2/Htra2^mnd2	involves: C3H/HeJ * C57BL/6J * CAST/Ei	MGI:2686978
hm4	Htra2^mnd2/Htra2^mnd2	involves: C57BL/6J	MGI:3778022

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

behavior/neurological

dystonia ( J:76481 )

• by 26 days of age, demonstrated as abnormal stretching of the limbs

impaired balance ( J:76481 )

• severe balancing problems begin around 3 weeks of age

akinesia ( J:76481 )

• increasingly evident by 26 days of age, complete by 30-35 days of age

bradykinesia ( J:76481 )

• episodes of sudden arrest begin around 3 weeks of age

• increasingly frequent episodes of random, involuntary movements by 26 days of age

increased stereotypic behavior ( J:76481 )

• repetitive movements begin around 3 weeks of age

growth/size/body

postnatal growth retardation ( J:76481 )

• mice did not gain weight after day 20, and by day 35, their weight was less than half that of unaffected littermates

immune system

abnormal interleukin level ( J:76481 )

• mice have elevated expression of Il1b, Il6, Il10, Il12 in the CNS, with highest expression in regions that exhibit neurodegeneration

abnormal tumor necrosis factor level ( J:76481 )

• mice have elevated expression of Tnf in the CNS, with highest expression in regions that exhibit neurodegeneration

muscle

dystonia ( J:76481 )

• by 26 days of age, demonstrated as abnormal stretching of the limbs

muscle spasm ( J:76481 )

• increased frequency of episodes of sudden involuntary limb movements by 26 days of age

nervous system

abnormal brain morphology ( J:76481 )

abnormal astrocyte morphology ( J:76481 )

gliosis ( J:76481 )

• astrogliosis and microglia activation in the striatum at 23 days of age

• in the N. amygdaloides corticalis, astrogliosis beginning at 26 days and microglia activation beginning at 31 days

• gliosis of cervical spinal cord motoneurons after day 30

neurodegeneration ( J:76481 )

• coronal sections from mice between the ages of 20 to 40 days showed progressive neurodegeneration, with the most extensive degeneration in the striatal neurons beginning around 23 days

• ~50% reduction in midstriatal neurons at 39 days of age

• clumps of chromatin exhibited a "bulls eye profile" in striatal neurodegeneration at 39 days

• laddering degradation of striatal DNA at 23 days and 39 days

• nuclear morphology of affected neurons showed characteristics of apoptosis

• cytoplasmic vacuoles and early disintegration of mitochondria in degenerating striatal neurons

• neuronal cell death was not detected in the cerebellum

• transgenic overexpression of human BCL2 in neurons did not prevent striatal cell loss

motor neuron degeneration ( J:76481 )

• sporadic degeneration and gliosis of cervical spinal cord motoneurons were observed after day 30

homeostasis/metabolism

abnormal interleukin level ( J:76481 )

• mice have elevated expression of Il1b, Il6, Il10, Il12 in the CNS, with highest expression in regions that exhibit neurodegeneration

abnormal tumor necrosis factor level ( J:76481 )

• mice have elevated expression of Tnf in the CNS, with highest expression in regions that exhibit neurodegeneration

Allelic Composition	Htra2^mnd2/Htra2^mnd2
Genetic Background	involves: C3H/He * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htra2^mnd2 mutation (1 available); any Htra2 mutation (19 available)

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

mortality/aging

premature death ( J:12780 )

• animals die within two weeks of onset, usually prior to 40 days of age

behavior/neurological

impaired balance ( J:12780 )

• caused by atrophy of the hind leg muscle

hunched posture ( J:12780 )

abnormal gait ( J:12780 )

• affected animals between 21 and 24 days of age walk with an unsteady gait with extended hind limbs, as if they are walking on tiptoe.

decreased locomotor activity ( J:12780 )

• resulting from the continued atrophy of the hind leg muscle

growth/size/body

postnatal growth retardation ( J:12780 )

• during disease progression mice fail to gain weight; and their growth falls significantly behind that of unaffected littermates

muscle

dystrophic muscle ( J:12780 )

• continued atrophy of the hind leg muscle results in a hunched posture, loss of balance, difficulty in recovering from a reclining position, and decline in mobility

Allelic Composition	Htra2^mnd2/Htra2^mnd2
Genetic Background	involves: C3H/HeJ * C57BL/6J * CAST/Ei

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htra2^mnd2 mutation (1 available); any Htra2 mutation (19 available)

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

mortality/aging

premature death ( J:12780 )

• mice die within 2 weeks of onset, usually prior to 40 days of age

adipose tissue

decreased total body fat amount ( J:50420 )

• no body fat was detected on necropsy

behavior/neurological

impaired balance ( J:50420 )

• apparent by 2-3 weeks of age

hunched posture ( J:50420 )

• in later stages of disease

abnormal gait ( J:50420 )

• unsteady gait apparent by 2-3 weeks of age

seizures ( J:50420 )

• increased frequency of generalized seizures in later stages of disease

growth/size/body

postnatal growth retardation ( J:50420 )

• wasted appearance by 2-3 weeks of age

hematopoietic system

abnormal thymus morphology ( J:12780 )

• significant regression of lymphoid cells at 30 days of age, although specific classes of cells were present in normal frequencies

spleen atrophy ( J:12780 )

• atrophy of both lymphoid and hematopoetic tissue in spleen by 30 days of age

• positive cells were present in normal frequencies for all antigens examined

immune system

abnormal thymus morphology ( J:12780 )

• significant regression of lymphoid cells at 30 days of age, although specific classes of cells were present in normal frequencies

spleen atrophy ( J:12780 )

• atrophy of both lymphoid and hematopoetic tissue in spleen by 30 days of age

• positive cells were present in normal frequencies for all antigens examined

muscle

muscular atrophy ( J:50420 )

• in later stages of disease

nervous system

seizures ( J:50420 )

• increased frequency of generalized seizures in later stages of disease

abnormal spinal cord morphology ( J:12780 )

• while the degree of cellularity in the spinal cord appeared normal, motoneurons in cervical and lumbar regions of the spinal cord were swollen and stained weakly for myelin

abnormal action potential ( J:12780 )

• abnormal spontaneous activity in sciatic-tibial innervated hind limb muscle, consisting of fibrillation potentials and positive waves

endocrine/exocrine glands

abnormal thymus morphology ( J:12780 )

• significant regression of lymphoid cells at 30 days of age, although specific classes of cells were present in normal frequencies

Allelic Composition	Htra2^mnd2/Htra2^mnd2
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htra2^mnd2 mutation (1 available); any Htra2 mutation (19 available)

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

behavior/neurological

abnormal behavior ( J:132627 )

• neural phenotype is stated to be identical to that of Hax1^tm1Jni homozygotes; however no data are presented

nervous system

abnormal nervous system morphology ( J:132627 )

immune system

abnormal immune system morphology ( J:132627 )

• loss of lymphocytes is stated to be identical to that of Hax1^tm1Jni homozygotes, and shows greater severity than Hax1 homozygotes

decreased pro-B cell number ( J:132627 )

decreased double-positive T cell number ( J:132627 )

decreased pre-B cell number ( J:132627 )

decreased single-positive T cell number ( J:132627 )

hematopoietic system

decreased pro-B cell number ( J:132627 )

decreased double-positive T cell number ( J:132627 )

abnormal bone marrow cell morphology/development ( J:132627 )

decreased pre-B cell number ( J:132627 )

decreased single-positive T cell number ( J:132627 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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